Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations-Reference-Cited by-同舟云学术

Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations

Published:2016-08 Issue:4 Volume:118 Page:264-271
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Chu Jordan,Pupavac Mihaela,Watkins David,Tian Xia,Feng Yanming,Chen Stella,Fenter Remington,Zhang Victor W.,Wang Jing,Wong Lee-Jun,Rosenblatt David S.

Funder

Canadian Institutes of Health Research

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference25 articles.

1. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut−, cblA, cblB);Hörster;Pediatr. Res.,2007

2. MRI characteristics of globus pallidus infarcts in isolated methylmalonic acidemia;Baker;AJNR Am. J. Neuroradiol.,2015

3. Long-term outcome in methylmalonic aciduria: a series of 30 French patients;Cosson;Mol. Genet. Metab.,2009

4. Inherited deficiencies of human methylmalonyl CaA mutase activity: reduced affinity of mutant apoenzyme for adenosylcobalamin;Willard;Biochem. Biophys. Res. Commun.,1977

5. Structure of the human methylmalonyl-CoA mutase (MUT) locus;Nham;Genomics,1990

Cited by 9 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. Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification;BMC Medical Genomics;2024-02-05

2. Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification;2023-06-26

3. Evaluation of the clinical, biochemical, genotype and prognosis ofmut-type methylmalonic acidemia in 365 Chinese cases;Journal of Medical Genetics;2023-06-14

4. Reconstructed glycosylase base editors GBE2.0 with enhanced C-to-G base editing efficiency and purity;Molecular Therapy;2022-07

5. A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients;Orphanet Journal of Rare Diseases;2021-01-07