Mutations in theMMAAgene in patients with thecblAdisorder of vitamin B12metabolism-Reference-Cited by-同舟云学术

Mutations in theMMAAgene in patients with thecblAdisorder of vitamin B12metabolism

Published:2004-11-02 Issue:6 Volume:24 Page:509-516
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Lerner-Ellis Jordan P.,Dobson C. Melissa,Wai Timothy,Watkins David,Tirone Jamie C.,Leclerc Daniel,Doré Carole,Lepage Pierre,Gravel Roy A.,Rosenblatt David S.

Funder

Canadian Institutes for Health Research (CIHR)

CIHR Group Grant in Medical Genetics, March of Dimes

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference12 articles.

1. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion;den Dunnen;Hum Mutat,2000

2. Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements;Dobson;Proc Natl Acad Sci USA,2002

3. Basecalling of automated sequencer traces using phred I. Accuracy assessment;Ewing;Genome Res,1998

4. Genetic and biochemical analysis of human cobalamin mutants in cell culture;Fenton;Annu Rev Genet,1978

5. Consed: a graphical tool for sequence finishing;Gordon;Genome Res,1998

Cited by 55 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia;Indian Journal of Pediatrics;2023-07-08

2. Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia;Journal of Inherited Metabolic Disease;2023-06-06

3. Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia;Journal of Inherited Metabolic Disease;2022-06-23

4. The role of nucleoside triphosphate hydrolase metallochaperones in making metalloenzymes;Metallomics;2022-04-29

5. Deciphering the effect of mutations in MMAA protein causing methylmalonic acidemia—A computational approach;Disorders of Protein Synthesis;2022