X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.
about
Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth SyndromeBarth syndrome.Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28.Barth syndrome is associated with a cognitive phenotype.Natural history of Barth syndrome: a national cohort study of 22 patients.The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.Mutation characterization and genotype-phenotype correlation in Barth syndrome.Eponym: Barth syndrome.Influence of tissue, diet, and enzymatic remodeling on cardiolipin fatty acyl profile.The cellular and molecular mechanisms for neutropenia in Barth syndrome.A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth SyndromeOverexpression of mitochondrial oxodicarboxylate carrier (ODC1) preserves oxidative phosphorylation in a yeast model of Barth syndrome.Preliminary evidence for a cognitive phenotype in Barth syndrome.A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome.
P2860
Q24298288-49567E95-A053-434C-BBD8-3B68B4B4C51CQ27692590-11D46A28-4BF1-4A64-8A22-D3EB4BD3EE7FQ34384658-CCAEBE30-EE0B-433F-BF63-70F4E6B57EEFQ34577468-B64BA176-C6B5-4BE3-A6B7-5DF883139C30Q34651626-6B135BB3-3EA0-4F66-A8FC-66C401CB26B8Q35249677-56B1EB69-E522-4130-851F-88B6675DD9DEQ35249701-7D730841-36C8-4BD1-96EA-434AFB65404DQ35249958-4CFB515B-7694-4BE8-A328-A43CF9BE50D8Q37938707-42DF1091-D3C0-4F5F-8674-077D12DFF1A5Q38803011-1B9836A1-4AD1-40C5-9C87-04E0B7BFF93EQ39453643-197B3DA1-9A52-4595-8A76-D123A6CD39D0Q41770047-35EDC5C6-2763-4DEE-9360-1A7D3648251DQ42089787-40A4E325-10C4-4AF9-9938-E3F9165F350BQ43705955-EA389B95-9F93-4ED8-B48D-0F91CC4DDCFEQ54795118-3915BE98-8445-47D6-BBF7-2128703AC0D6
P2860
X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.
description
1995 nî lūn-bûn
@nan
1995 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
X linked fatal infantile cardi ...... bly allelic to Barth syndrome.
@ast
X linked fatal infantile cardi ...... bly allelic to Barth syndrome.
@en
type
label
X linked fatal infantile cardi ...... bly allelic to Barth syndrome.
@ast
X linked fatal infantile cardi ...... bly allelic to Barth syndrome.
@en
prefLabel
X linked fatal infantile cardi ...... bly allelic to Barth syndrome.
@ast
X linked fatal infantile cardi ...... bly allelic to Barth syndrome.
@en
P2093
P2860
P356
P1476
X linked fatal infantile cardi ...... bly allelic to Barth syndrome.
@en
P2093
P2860
P304
P356
10.1136/JMG.32.5.383
P407
P577
1995-05-01T00:00:00Z