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FI841479L - Fenylalaninhydroxilas- cdna- kloner, foerfarande foer framstaellning av dessa och anvaendning av dessa foer diagnostisering av fenylketonuri. - Google Patents

Fenylalaninhydroxilas- cdna- kloner, foerfarande foer framstaellning av dessa och anvaendning av dessa foer diagnostisering av fenylketonuri. Download PDF

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Publication number
FI841479L
FI841479L FI841479A FI841479A FI841479L FI 841479 L FI841479 L FI 841479L FI 841479 A FI841479 A FI 841479A FI 841479 A FI841479 A FI 841479A FI 841479 L FI841479 L FI 841479L
Authority
FI
Finland
Prior art keywords
dessa
foer
phenylketonuri
hydroxilas
diagnostisering
Prior art date
Application number
FI841479A
Other languages
English (en)
Other versions
FI841479A0 (fi
Inventor
Savio L C Woo
T Chandra Thirumachary
Alan S Lidksy
Kathryn J H Robson
Original Assignee
Hughes Howard Med Inst
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Hughes Howard Med Inst filed Critical Hughes Howard Med Inst
Publication of FI841479A0 publication Critical patent/FI841479A0/fi
Publication of FI841479L publication Critical patent/FI841479L/fi

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    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N9/00Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/0004Oxidoreductases (1.)
    • C12N9/0071Oxidoreductases (1.) acting on paired donors with incorporation of molecular oxygen (1.14)
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813Hybridisation assays
    • C12Q1/6827Hybridisation assays for detection of mutation or polymorphism
    • C12Q1/683Hybridisation assays for detection of mutation or polymorphism involving restriction enzymes, e.g. restriction fragment length polymorphism [RFLP]
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12YENZYMES
    • C12Y114/00Oxidoreductases acting on paired donors, with incorporation or reduction of molecular oxygen (1.14)
    • C12Y114/16Oxidoreductases acting on paired donors, with incorporation or reduction of molecular oxygen (1.14) with reduced pteridine as one donor, and incorporation of one atom of oxygen (1.14.16)
    • C12Y114/16001Phenylalanine 4-monooxygenase (1.14.16.1)
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/172Haplotypes

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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Genetics & Genomics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • General Health & Medical Sciences (AREA)
  • General Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Analytical Chemistry (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Physics & Mathematics (AREA)
  • Biophysics (AREA)
  • Biomedical Technology (AREA)
  • Medicinal Chemistry (AREA)
  • Pathology (AREA)
  • Enzymes And Modification Thereof (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Medicines Containing Antibodies Or Antigens For Use As Internal Diagnostic Agents (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
FI841479A 1983-04-14 1984-04-13 Fenylalaninhydroxilas- cdna- kloner, foerfarande foer framstaellning av dessa och anvaendning av dessa foer diagnostisering av fenylketonuri. FI841479L (fi)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
US48481683A 1983-04-14 1983-04-14

Publications (2)

Publication Number Publication Date
FI841479A0 FI841479A0 (fi) 1984-04-13
FI841479L true FI841479L (fi) 1984-10-15

Family

ID=23925734

Family Applications (1)

Application Number Title Priority Date Filing Date
FI841479A FI841479L (fi) 1983-04-14 1984-04-13 Fenylalaninhydroxilas- cdna- kloner, foerfarande foer framstaellning av dessa och anvaendning av dessa foer diagnostisering av fenylketonuri.

Country Status (9)

Country Link
EP (1) EP0126544A3 (fi)
JP (1) JPS6012987A (fi)
AU (1) AU2682984A (fi)
DK (1) DK192084A (fi)
ES (1) ES8604647A1 (fi)
FI (1) FI841479L (fi)
IL (1) IL71505A0 (fi)
NO (1) NO841471L (fi)
PT (1) PT78416B (fi)

Families Citing this family (9)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
IL74761A0 (en) * 1984-04-13 1985-06-30 Hughes Howard Med Inst Human phenylalanine hydroxylase cdna clones,their production and their use in diagnosing classical phenylketonuria
US4745060A (en) * 1984-12-28 1988-05-17 Board Of Regents, The University Of Texas System Methods and compositions for the detection of Familial Hypercholesterolemia
US4965190A (en) * 1986-07-31 1990-10-23 Howard Hughes Medical Institute Methods for the identification of mutations in the human phenylalanine hydroxylase gene using DNA probes
EP0318301A3 (en) * 1987-11-25 1991-01-16 City Of Hope Tourette syndrome, autism and associated behaviours
MX2020008133A (es) 2018-02-01 2020-10-14 Homology Medicines Inc Composiciones de virus adeno-asociado para restaurar la funcion del gen pah y metodos de uso de las mismas.
US10610606B2 (en) 2018-02-01 2020-04-07 Homology Medicines, Inc. Adeno-associated virus compositions for PAH gene transfer and methods of use thereof
CN110456056A (zh) * 2019-07-22 2019-11-15 浙江大学 一种新生儿苯丙酮尿症无创筛查试纸的制备方法
TW202140791A (zh) 2020-01-13 2021-11-01 美商霍蒙拉奇醫藥公司 治療苯酮尿症之方法
TW202208632A (zh) 2020-05-27 2022-03-01 美商同源醫藥公司 用於恢復pah基因功能的腺相關病毒組成物及其使用方法

Also Published As

Publication number Publication date
PT78416B (en) 1986-05-27
DK192084D0 (da) 1984-04-13
JPS6012987A (ja) 1985-01-23
IL71505A0 (en) 1984-07-31
FI841479A0 (fi) 1984-04-13
ES531629A0 (es) 1986-02-01
DK192084A (da) 1984-10-15
PT78416A (en) 1984-05-01
EP0126544A3 (en) 1986-12-03
ES8604647A1 (es) 1986-02-01
AU2682984A (en) 1984-10-18
NO841471L (no) 1984-10-15
EP0126544A2 (en) 1984-11-28

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Date Code Title Description
FA Application withdrawn [patent]

Owner name: HOWARD HUGHES MEDICAL INSTITUTE