Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.
about
Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolismBarth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirthMitochondrial dynamism and heart disease: changing shape and shaping changeBarth syndrome.Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardiumThe 3-methylglutaconic acidurias: what's new?Barth syndrome is associated with a cognitive phenotype.Natural history of Barth syndrome: a national cohort study of 22 patients.Barth syndrome, a human disorder of cardiolipin metabolism.Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth SyndromeLeft ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort.Eponym: Barth syndrome.Inborn errors of metabolism underlying primary immunodeficiencies.Influence of tissue, diet, and enzymatic remodeling on cardiolipin fatty acyl profile.Clinical Characteristics and Outcomes of Cardiomyopathy in Barth Syndrome: The UK Experience.A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth SyndromeRole of Cardiolipin in Mitochondrial Signaling PathwaysPreliminary evidence for a cognitive phenotype in Barth syndrome.Barth syndrome cardiomyopathy.A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome.
P2860
Q24317315-C415D776-0D53-4B13-A904-97C3CEACD097Q24632525-3A491E1B-7B6F-475F-A844-860A29AABD3CQ26825299-79869C2C-4C41-47BA-B6C8-8D4352D6BA52Q27692590-8A3622AA-F4EE-4833-AEB6-6089EA783C76Q28248533-63BEB75C-78BC-4F1E-81A6-A2FDAC98EB54Q34140909-85911EE7-8FD9-45A1-96DC-66E1D4A0CD49Q34577468-84BB4813-7A6D-426A-92A9-B94E1B74177FQ34651626-3703A648-1B22-46CE-AA7C-2A51BD6B0409Q36594262-0DDE0BB7-65A0-4927-B0A2-B6300780E851Q37048226-0D06BE45-500C-42A1-A9F8-75A3A7A23BB5Q37302261-AB7704E0-5703-4723-B040-16E9A64F961FQ37635333-F834420F-B8B5-46F7-BF41-5BC84FE7D7BBQ37938707-3BC1C48B-44B1-48B2-9966-107846D93659Q38235840-F2780A7B-060D-4688-A79A-F6A1464E1606Q38803011-8FCE5989-036D-4578-974D-2F706975BFD1Q41420048-A2F2410E-5E51-4A94-B5F1-A4A079E20DBFQ41770047-4430B97D-7505-4618-9590-62F3654BE930Q42369764-2867AB3F-E6A7-47BF-B3D9-8FA7160C6949Q43705955-501FA9DD-8C59-45F1-BB07-15AC785B03ABQ46423521-6BE61086-DD2E-42FB-B674-421B560E9691Q54795118-98CEA7CE-227E-4C77-9EFB-589C0FE557F7
P2860
Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.
description
1999 nî lūn-bûn
@nan
1999 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի սեպտեմբերին 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
Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.
@ast
Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.
@en
type
label
Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.
@ast
Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.
@en
prefLabel
Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.
@ast
Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.
@en
P2093
P1476
Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.
@en
P2093
Cantlay AM
Newbury-Ecob RA
Shokrollahi K
Steward CG
P304
P356
10.1016/S0022-3476(99)70126-5
P407
P577
1999-09-01T00:00:00Z