Mutations in theAUH gene cause 3-methylglutaconic aciduria type I-Reference-Cited by-同舟云学术

Mutations in theAUH gene cause 3-methylglutaconic aciduria type I

Published:2003-03-19 Issue:4 Volume:21 Page:401-407
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Ly T.B. Nga,Peters Verena,Gibson K. Michael,Liesert Michael,Buckel Wolfgang,Wilcken Bridget,Carpenter Kevin,Ensenauer Regina,Hoffmann Georg F.,Mack Matthias,Zschocke Johannes

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference21 articles.

1. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

2. Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews

3. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)

4. Characterisation and mitochondrial localisation of AUH, an AU-specific RNA-binding enoyl-CoA hydratase

5. Application of natural and amplification created restriction sites for the diagnosis of PKU mutations

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3. 3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature;International Journal of Molecular Sciences;2022-04-16

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