X chromosome inactivation and the diagnosis of X linked disease in females

X chromosome inactivation and the diagnosis of X linked disease in females

Item
http://www.wikidata.org/entity/Q33595049
Pyruvate dehydrogenase deficiencyPyruvate dehydrogenase E1 alpha deficiency: males and females differ yet againX inactivation patterns in female monozygotic twins and their familiesSevere alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele.Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.Heritability of X chromosome--inactivation phenotype in a large family.Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.Detection of pyruvate dehydrogenase E1 alpha-subunit deficiencies in females by immunohistochemical demonstration of mosaicism in cultured fibroblasts.Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemophilia B.
P2860

X chromosome inactivation and the diagnosis of X linked disease in females

Item
http://www.wikidata.org/entity/Q33595049
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
X chromosome inactivation and the diagnosis of X linked disease in females
@ast
X chromosome inactivation and the diagnosis of X linked disease in females
@en
type
label
X chromosome inactivation and the diagnosis of X linked disease in females
@ast
X chromosome inactivation and the diagnosis of X linked disease in females
@en
prefLabel
X chromosome inactivation and the diagnosis of X linked disease in females
@ast
X chromosome inactivation and the diagnosis of X linked disease in females
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932
P356
P1433
P1476
X chromosome inactivation and the diagnosis of X linked disease in females
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932