Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.
about
RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.RET and PHOX2B genetic polymorphisms and Hirschsprung's disease susceptibility: a meta-analysisTwo founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian populationExpanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.RET and NRG1 interplay in Hirschsprung disease.HaploShare: identification of extended haplotypes shared by cases and evaluation against controlsPotential association of VAMP5 polymorphisms with total colonic aganglionosis in Hirschsprung disease.Chronic intestinal pseudo-obstruction in a child harboring a founder Hirschsprung RET mutation.Mutations in the NRG1 gene are associated with Hirschsprung diseaseAncestral mutations may cause a significant proportion of GCK-MODYMost recent common ancestor ofTTRVal30Met mutation in Italian population and its potential role in genotype-phenotype correlation
P2860
Q34103539-FD53AED0-452D-4442-995B-143646158939Q35126633-AF3FE049-90EC-481B-A8CD-402FA385C80CQ35673470-72D21F41-D2BA-4CDE-B314-EE8C8F0324A2Q36129789-63DB314F-9C09-4C66-871E-B23026F0E881Q39196293-A5843D35-657B-4129-9381-3DFAFF6B336EQ40703443-0A9E90EB-FD35-4D2B-97D8-F82EF49AD1E8Q40857463-F2D10A39-ACF9-477B-BBEA-90D6450D6857Q55021518-5DAF95D5-0DD6-4B80-AE82-7578ABC23F12Q57233951-D8C05794-972A-41BC-9CB1-2C7ADA1EBEA1Q58025021-AF16B0A0-E723-468C-838D-8D8214662260Q58187069-9DB767D9-3199-4E50-B2B6-EC26229B625D
P2860
Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
name
Haplotype analysis reveals a p ...... ase in the Chinese population.
@ast
Haplotype analysis reveals a p ...... ase in the Chinese population.
@en
type
label
Haplotype analysis reveals a p ...... ase in the Chinese population.
@ast
Haplotype analysis reveals a p ...... ase in the Chinese population.
@en
prefLabel
Haplotype analysis reveals a p ...... ase in the Chinese population.
@ast
Haplotype analysis reveals a p ...... ase in the Chinese population.
@en
P2093
P2860
P50
P1433
P1476
Haplotype analysis reveals a p ...... ease in the Chinese population
@en
P2093
Belinda K Cornes
Kenneth J W S Hui
Man-Ting So
Maria-Merce Garcia-Barcelo
Pak C Sham
Thomas Y Y Leon
Xiaoping Miao
P2860
P304
P356
10.1371/JOURNAL.PONE.0010918
P407
P577
2010-06-02T00:00:00Z