Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis.
about
Respiratory diseases in minorities of the United StatesMutations and phenotype in isolated glycerol kinase deficiencyMutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosisMutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families.Pancreatic function and gene deletion F508 in cystic fibrosis.A cystic fibrosis pancreatic adenocarcinoma cell lineCystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.Two frameshift mutations in the cystic fibrosis gene.Application of DNA analysis in a population-screening program for neonatal diagnosis of cystic fibrosis (CF): comparison of screening protocols.Estimation of the incidence of a rare genetic disease through a two-tier mutation surveyAttitudes toward the prenatal diagnosis of cystic fibrosis: factors in decision making among affected families.Mutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the southwest.Ethnic heterogeneity and cystic fibrosis transmembrane regulator (CFTR) mutation frequencies in Chicago-area CF families.Cystic fibrosis mutations in North American populations of French ancestry: analysis of Quebec French-Canadian and Louisiana Acadian families.Benign missense variations in the cystic fibrosis gene.Perception of carrier status by cystic fibrosis siblings.A mouse model for the delta F508 allele of cystic fibrosis.Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium.Cystic fibrosis: current survival and population estimates to the year 2000.Genetic screening for the next decade: application of present and new technologies.Abnormal localization of cystic fibrosis transmembrane conductance regulator in primary cultures of cystic fibrosis airway epitheliaCystic fibrosis. 3. Cloning the cystic fibrosis gene: implications for diagnosis and treatmentGTP-binding proteins inhibit cAMP activation of chloride channels in cystic fibrosis airway epithelial cells.Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes.Perspectives in Pediatric Pathology, Chapter 22. Testicular Involvement in Systemic Diseases.The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity.Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin.Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe diseaseA dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the delta F508 mutation: implications for prenatal diagnosis and mutation origin.DNA diagnosis in monogenic diseases.Investigation of coelectroporation as a method for introducing small mutations into embryonic stem cells.Cystic fibrosis mutations delta F508 and G542X in Jewish patients.Pregnancy in patients with cystic fibrosis.Cystic fibrosis genotypes and views on screening are both heterogeneous and population related.Genetics and lung disease.Cystic fibrosis mutations among African Americans in the southeastern United States.Cystic fibrosis transmembrane conductance regulator gene mutations: do they play a role in the aetiology of allergic bronchopulmonary aspergillosis?The cystic fibrosis gene: isolation and significance.
P2860
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P2860
Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis.
description
1990 nî lūn-bûn
@nan
1990年の論文
@ja
1990年学术文章
@wuu
1990年学术文章
@zh
1990年学术文章
@zh-cn
1990年学术文章
@zh-hans
1990年学术文章
@zh-my
1990年学术文章
@zh-sg
1990年學術文章
@yue
1990年學術文章
@zh-hant
name
Mutation analysis for heterozy ...... diagnosis of cystic fibrosis.
@en
Mutation analysis for heterozy ...... diagnosis of cystic fibrosis.
@nl
type
label
Mutation analysis for heterozy ...... diagnosis of cystic fibrosis.
@en
Mutation analysis for heterozy ...... diagnosis of cystic fibrosis.
@nl
prefLabel
Mutation analysis for heterozy ...... diagnosis of cystic fibrosis.
@en
Mutation analysis for heterozy ...... diagnosis of cystic fibrosis.
@nl
P2093
P1476
Mutation analysis for heterozy ...... diagnosis of cystic fibrosis.
@en
P2093
Beaudet AL
Collins FS
Feldman GL
Fernbach SD
O'Brien WE
Riordan JR
Zevkovich EP
P304
P356
10.1056/NEJM199002013220503
P407
P577
1990-02-01T00:00:00Z