Spectrum of mutations inmutmethylmalonic acidemia and identification of a common Hispanic mutation and haplotype-Reference-Cited by-同舟云学术

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Spectrum of mutations inmutmethylmalonic acidemia and identification of a common Hispanic mutation and haplotype

Published:2006-01 Issue:1 Volume:27 Page:31-43
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Worgan Lisa C.,Niles Kirsten,Tirone Jamie C.,Hofmann Adam,Verner Andrei,Sammak Alya'a,Kucic Terrence,Lepage Pierre,Rosenblatt David S.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference36 articles.

1. N219Y, a new frequent mutation among mut0 forms of methylmalonic acidemia in Caucasian patients;Acquaviva;Eur J Hum Genet,2001

2. Molecular basis of methylmalonyl CoA mutase apoenzyme defect in 40 European patients affected by mut0 and mut- forms of methylmalonic academia: identification of 29 novel mutations in the MUT gene;Acquaviva;Hum Mutat,2005

3. A common mutation among blacks with mut- methylmalonic aciduria;Adjalla;Hum Mutat,1998

4. Seven novel mutations in mut methylmalonic aciduria;Adjalla;Hum Mutat,1998

5. Recommendations for a nomenclature system for human gene mutations;Antonarakis;Hum Mutat,1998

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3. Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study;Orphanet Journal of Rare Diseases;2024-05-15

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