Benign missense variations in the cystic fibrosis gene.

Benign missense variations in the cystic fibrosis gene.

Item
http://www.wikidata.org/entity/Q35198323
Lung infections associated with cystic fibrosis.Neonates with cystic fibrosis have a reduced nasal liquid pH; a small pilot study.Reversal of cystic fibrosis phenotype in a cultured Delta508 cystic fibrosis transmembrane conductance regulator cell line by oligonucleotide insertion.A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe diseaseDevelopment, multiplexing, and application of ARMS tests for common mutations in the CFTR gene.Missense variations in the cystic fibrosis gene: heteroduplex formation in the F508C mutation.Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy.Mutational analysis of the yeast a-factor transporter STE6, a member of the ATP binding cassette (ABC) protein superfamily.A healthy male with compound and double heterozygosities for delta F508, F508C, and M47OV in exon 10 of the cystic fibrosis gene.Mutation analysis in 600 French cystic fibrosis patients.Compound heterozygosity for the delta F508 and F508C cystic fibrosis transmembrane conductance regulator (CFTR) mutations in a patient with congenital bilateral aplasia of the vas deferensCystic fibrosis genotypes and views on screening are both heterogeneous and population related.
P2860

Benign missense variations in the cystic fibrosis gene.

Item
http://www.wikidata.org/entity/Q35198323
description
1990 nî lūn-bûn
@nan
1990 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Benign missense variations in the cystic fibrosis gene.
@ast
Benign missense variations in the cystic fibrosis gene.
@en
type
label
Benign missense variations in the cystic fibrosis gene.
@ast
Benign missense variations in the cystic fibrosis gene.
@en
prefLabel
Benign missense variations in the cystic fibrosis gene.
@ast
Benign missense variations in the cystic fibrosis gene.
@en
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P921
P932
P1433
P1476
Benign missense variations in the cystic fibrosis gene.
@en
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P921
P932