Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation.
about
A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndromeX chromosome-inactivation patterns of 1,005 phenotypically unaffected females.X inactivation in females with X-linked Charcot-Marie-Tooth disease.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders.Carrier analysis of a moderately affected haemophilia B family.A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness.
P2860
Q28198461-37C0ADAB-864B-472F-9AA0-8A83EB8127F0Q35015824-226D5034-59AD-449F-B4D6-A90E18299645Q36852835-ED521A95-542F-415B-8763-3A1C2EA64E3AQ37187461-0F018C02-BA6F-4530-9BF5-530452AF8C67Q37361965-C1A033A9-0935-4E00-8387-C9FD11278FEFQ45873344-9FC577D8-8B8F-42B9-8C28-85C485BCDE6DQ50491845-6C31103F-D642-4A41-BAAD-D431F2F13EF7
P2860
Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation.
description
1999 nî lūn-bûn
@nan
1999 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի մարտին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Evidence that mutations in the ...... ariable skewed X inactivation.
@ast
Evidence that mutations in the ...... ariable skewed X inactivation.
@en
Evidence that mutations in the ...... ariable skewed X inactivation.
@nl
type
label
Evidence that mutations in the ...... ariable skewed X inactivation.
@ast
Evidence that mutations in the ...... ariable skewed X inactivation.
@en
Evidence that mutations in the ...... ariable skewed X inactivation.
@nl
prefLabel
Evidence that mutations in the ...... ariable skewed X inactivation.
@ast
Evidence that mutations in the ...... ariable skewed X inactivation.
@en
Evidence that mutations in the ...... ariable skewed X inactivation.
@nl
P2093
P2860
P356
P1476
Evidence that mutations in the ...... ariable skewed X inactivation.
@en
P2093
C Schwartz
H F Willard
L Tranebjaerg
P K Jensen
R M Plenge
P2860
P304
P356
10.1086/302286
P407
P577
1999-03-01T00:00:00Z