CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency
about
Genetic and mechanistic evaluation for the mixed-field agglutination in B3 blood type with IVS3+5G>A ABO gene mutationMutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese.Targeted next-generation sequencing identification of mutations in patients with disorders of sex development.Role of pseudoexons and pseudointrons in human cancer.Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation.
P2860
CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency
description
2011 nî lūn-bûn
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2011 թուականին հրատարակուած գիտական յօդուած
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2011 թվականին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
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2011年論文
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2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
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2011年论文
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name
CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency
@ast
CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency
@en
CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency
@nl
type
label
CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency
@ast
CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency
@en
CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency
@nl
prefLabel
CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency
@ast
CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency
@en
CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency
@nl
P2093
P2860
P1433
P1476
CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency
@en
P2093
Alexandra E Kulle
Chi-Chih Hung
Daw-Yang Hwang
Felix G Riepe
Hung-Chun Chen
Mei-Chuan Kuo
Mei-Chyn Chao
Richard J Auchus
Shang-Jyh Hwang
P2860
P304
P356
10.1371/JOURNAL.PONE.0025492
P407
P577
2011-01-01T00:00:00Z