Pages that link to "Q48227809"
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The following pages link to Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene (Q48227809):
Displaying 50 items.
- Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%. (Q30445511) (← links)
- A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations (Q33675035) (← links)
- Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation (Q33677876) (← links)
- P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population. (Q33680182) (← links)
- Human epithelial cystic fibrosis transmembrane conductance regulator without exon 5 maintains partial chloride channel function in intracellular membranes (Q34041271) (← links)
- Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the cystic fibrosis genetic analysis consortium (Q34211892) (← links)
- Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population (Q34539932) (← links)
- Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis (Q35093419) (← links)
- A rapid molecular approach for chromosomal phasing (Q35147393) (← links)
- The spectrum of cystic fibrosis mutations (Q35150488) (← links)
- Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population (Q35194354) (← links)
- Genetic determination of exocrine pancreatic function in cystic fibrosis (Q35195369) (← links)
- A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene (Q35204524) (← links)
- Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis (Q35209665) (← links)
- The molecular basis of partial penetrance of splicing mutations in cystic fibrosis. (Q35239086) (← links)
- Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number (Q35250646) (← links)
- CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens (Q35642996) (← links)
- Antenatal screening for carriers of cystic fibrosis: randomised trial of stepwise v couple screening (Q36902278) (← links)
- Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity (Q37227772) (← links)
- Structural cues involved in endoplasmic reticulum degradation of G85E and G91R mutant cystic fibrosis transmembrane conductance regulator (Q37371685) (← links)
- cAMP-inducible chloride conductance in mouse fibroblast lines stably expressing the human cystic fibrosis transmembrane conductance regulator (Q37583485) (← links)
- Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene (Q38335507) (← links)
- Update and Review: Cystic Fibrosis (Q38542676) (← links)
- Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel (Q39129153) (← links)
- Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease (Q40544589) (← links)
- Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene (Q40550432) (← links)
- Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis (Q41038949) (← links)
- Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts (Q41093708) (← links)
- Unexpected inactivation of acceptor consensus splice sequence by a -3 C to T transition in intron 2 of the CFTR gene (Q41459838) (← links)
- Mutation analysis of 184 cystic fibrosis families in Wales (Q41642795) (← links)
- A cystic fibrosis patient who is homozygous for the G85E mutation has very mild disease (Q41674768) (← links)
- Evaluation of laboratory methods for cystic fibrosis carrier screening: reliability, sensitivity, specificity, and costs (Q41814756) (← links)
- Cystic fibrosis and mucins (Q42665354) (← links)
- CFTR gene variant for patients with congenital absence of vas deferens (Q42950849) (← links)
- Improved detection of CFTR mutations in Southern California Hispanic CF patients (Q43773527) (← links)
- Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization: a technology for carrier screening (Q44492485) (← links)
- Sequence analysis of the cystic fibrosis gene in patients with disseminated bronchiectatic lung disease. Application in the identification of a cystic fibrosis patient with atypical clinical course (Q44531381) (← links)
- Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients (Q47418770) (← links)
- Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families (Q48188173) (← links)
- A sequence variation in intron 17B of the cystic fibrosis transmembrane conductance regulator gene (Q48194254) (← links)
- Genetic analysis of cystic fibrosis in Denmark. Implications for genetic counselling, carrier diagnosis and prenatal diagnosis (Q50543971) (← links)
- The adolescent growth spurt in children with cystic fibrosis. (Q52378124) (← links)
- Screening for CF mutations in adult cystic fibrosis patients with a directed and optimized SSCP strategy. (Q53476375) (← links)
- Complete detection of mutations in cystic fibrosis patients of Native American origin. (Q53827071) (← links)
- Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene (Q57304614) (← links)
- Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G→A, and 3667de14) (Q57304761) (← links)
- Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories (Q58020445) (← links)
- Genotype analysis in cystic fibrosis in relation to the occurrence of diabetes mellitus (Q58020519) (← links)
- Single-stranded conformation polymorphism analysis of the CFTR gene in slovenian cystic fibrosis patients: Detection of mutations and sequence variations (Q58277988) (← links)
- Screening for cystic fibrosis mutations in Southern France: Identification of a frameshift mutation and two missense variations (Q58278033) (← links)