A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients. J Med Genet. 2000; 37 :215–218.Wang J, Bowman MC, Hsu E, Wertz K, Wong CL-J. A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients....
Congenital bilateral absence of vas deferens (CBAVD) is a form of male infertility in which mutations occur in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The molecular basis of CBAVD is not completely understood, especially in developing countries.We characterized the mutations...
Medical genetics: advances in brief: Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene JCK Barber - 《Journal of Medical Genetics》 被引量: 0发表: 1993年 Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers Highly informative ...
OBJECTIVE: To determine whether mutations in the cystic fibrosis transmembrane regulator (CFTR) gene, which is responsible for CF, predispose to CRS. DESIGN: Case-control study conducted from 1996 to 1999 in which the DNA of CRS patients and controls was typed for 16 mutations that account for...
We investigated interactions between a mutation (D9N) in the lipoprotein lipase (LPL) gene and physical activity, as well as other lifestyle factors, on lipid traits in a population-based sample of Dutch men and women (n = 379). We used questionnaire information to classify physical activity...
We present a series of four Ecuadorian patients homozygous for the H609R mutation in the CFTR gene. This is the first report of detection of this mutation in the Ecuadorian population. Taking advantage of the homozygous status of the patients, an evaluation of the most important clinical ...
Mitochondrial DNA depletion syndrome-13 (MTDPS13) is caused by mutations in FBXL4 (F-box and leucine-rich repeat protein 4), a nuclear gene encoding an F-box protein that plays a role in maintaining mtDNA integrity and stability. Methods We identified a novel homozygous FBXL4 gene mutation,...
The most common cystic fibrosis mutation deletes phenylalanine 508 in CFTR (CFTR-F508). This mutation causes the loss of CFTR Cl- channel activity by disrupting biosynthetic processing so that mutant protein does not reach the plasma membrane. It also decreases the rate at which mutant channels ...
Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the cystic fibrosis geneti... Cystic fibrosis is the most common autosomal disorder in the Caucasian population. Since the description of the major mutation of this disease...
Moreover, also familial HDL deficiency may be caused by mutations in ABCA1 gene. ATP-binding cassette transporter A1 (ABCA1) gene mutations in a patient with Tangier disease, who presented an uncommon clinical history, and in his family were found and characterized. He was found to be ...