Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene.
about
Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among CaucasiansClinical features of cystic fibrosis patients with rare genotypes.Recombinational and mutational hotspots within the human lipoprotein lipase geneCladistic structure within the human Lipoprotein lipase gene and its implications for phenotypic association studies.Achondroplasia is defined by recurrent G380R mutations of FGFR3Mutation analysis of 184 cystic fibrosis families in WalesMolecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure.Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.Recurrent 3-bp deletion at codon 255/256 of the rhodopsin gene in a German pedigree with autosomal dominant retinitis pigmentosa.Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene
P2860
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P2860
Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene.
description
1991 nî lūn-bûn
@nan
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
1991年论文
@zh
1991年论文
@zh-cn
name
Discrimination between recurre ...... e cystic fibrosis (CFTR) gene.
@en
type
label
Discrimination between recurre ...... e cystic fibrosis (CFTR) gene.
@en
prefLabel
Discrimination between recurre ...... e cystic fibrosis (CFTR) gene.
@en
P2093
P356
P1433
P1476
Discrimination between recurre ...... e cystic fibrosis (CFTR) gene.
@en
P2093
P2888
P304
P356
10.1007/BF00197168
P577
1991-08-01T00:00:00Z
P6179
1038121121