Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.
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Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central ItalyIdentification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31Long-term follow-up of distal intestinal obstruction syndrome in cystic fibrosisCFTR Gene Mutations and Asthma in Indian Children: A Case-Control Study.Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite populationCFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens.Assessing the Disease-Liability of Mutations in CFTRCystic fibrosis: current therapeutic targets and future approaches.Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosisThe frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel.A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.Cystic fibrosis carrier screening: comparability of data and uniformity of testing.Cystic fibrosis genotypes and views on screening are both heterogeneous and population related.
P2860
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P2860
Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.
description
1992 nî lūn-bûn
@nan
1992 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Screening for five mutations d ...... e Jewish Ashkenazi population.
@ast
Screening for five mutations d ...... e Jewish Ashkenazi population.
@en
Screening for five mutations detects 97% of cystic fibrosis
@nl
type
label
Screening for five mutations d ...... e Jewish Ashkenazi population.
@ast
Screening for five mutations d ...... e Jewish Ashkenazi population.
@en
Screening for five mutations detects 97% of cystic fibrosis
@nl
prefLabel
Screening for five mutations d ...... e Jewish Ashkenazi population.
@ast
Screening for five mutations d ...... e Jewish Ashkenazi population.
@en
Screening for five mutations detects 97% of cystic fibrosis
@nl
P2093
P2860
P1476
Screening for five mutations d ...... e Jewish Ashkenazi population.
@en
P2093
Abeliovich D
Cutting GR
Springer C
P2860
P304
P407
P577
1992-11-01T00:00:00Z