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
about
Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypesNewborn screening for cystic fibrosis in Alberta: Two years of experience.A genomewide screen for chronic rhinosinusitis genes identifies a locus on chromosome 7q.A population-based study of autosomal-recessive disease-causing mutations in a founder populationImproving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility studyAn estimate of the average number of recessive lethal mutations carried by humans.Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite populationA 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.Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.
P2860
Q24598291-D6553F8C-7B0A-4848-A8A1-00AEDF82B1E0Q34229311-92D38C69-43CB-40C5-AAEE-D9A5AAB6C7AEQ34886306-86F64DFF-C0E7-49FB-8831-FF2CAFED7408Q36358475-4FDF5973-2AEE-498A-AAE1-2DAF5680700FQ36715334-8EE146F8-FFBD-4178-94A4-6EC3876459F2Q39451340-4E3DEE06-A399-4B95-B129-0B6B2B4439AEQ41969459-B616FB17-672C-4657-B7EE-CDA013C3B495Q41976697-1ABE15D1-C1FC-4112-9BD2-7BE3E1449911Q42038231-B12709F7-D554-46ED-9CF0-57CE0967E5A8
P2860
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
description
1993 nî lūn-bûn
@nan
1993 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի մարտին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Identification of the M1101K m ...... ns in the Hutterite population
@ast
Identification of the M1101K m ...... ns in the Hutterite population
@en
type
label
Identification of the M1101K m ...... ns in the Hutterite population
@ast
Identification of the M1101K m ...... ns in the Hutterite population
@en
prefLabel
Identification of the M1101K m ...... ns in the Hutterite population
@ast
Identification of the M1101K m ...... ns in the Hutterite population
@en
P2093
P2860
P1476
Identification of the M1101K m ...... ns in the Hutterite population
@en
P2093
Anacleto AI
Fujiwara TM
Klinger KW
Markiewicz D
Paradis AJ
Richards B
Schwartz RH
Zielenski J
P2860
P304
P407
P577
1993-03-01T00:00:00Z