Morle et al., 2011 - Google Patents
A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa)Morle et al., 2011
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- 9535671128729314126
- Author
- Morle L
- Hayette S
- Dhermy D
- dos Santos M
- Bozon M
- Drenckhahn D
- Alloisio N
- Texier P
- Delaunay J
- Publication year
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MATERIALS AND METHODS Case report. The proband was born in 1967, 80 km north of Lisboa (Portugal). She had no major medical history until the age of 20. Several tests in 1986 failed to show any conspicuous anemia [hemoglobin (Hb) level: 124, 128, and 135 gL] …
- 102000004169 proteins and genes 0 title description 84
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- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Hybridisation probes
- C12Q1/6883—Hybridisation probes for diseases caused by alterations of genetic material
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- C07K—PEPTIDES
- C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
- C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
- C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
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- C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
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- G01N33/48—Investigating or analysing materials by specific methods not covered by the preceding groups biological material, e.g. blood, urine; Haemocytometers
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