High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria-Reference-Cited by-同舟云学术

High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria

Published:2013-09 Issue:1-2 Volume:110 Page:86-89
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Illson Margaret L.,Dempsey-Nunez Laura,Kent Jana,Huang Qiuying,Brebner Alison,Raff Michael L.,Watkins David,Gilfix Brian M.,Wittwer Carl T.,Rosenblatt David S.

Publisher

Elsevier BV

Subject

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

Reference19 articles.

1. Inborn errors of cobalamin absorption and metabolism;Watkins;Am. J. Med. Genet. C,2011

2. Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype;Worgan;Hum. Mutat.,2006

3. Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria;Dobson;Hum. Molec. Genet.,2002

4. Gene identification for the cblD defect of vitamin B12 metabolism;Coelho;N. Engl. J. Med.,2008

5. Causes of and diagnostic approach to methylmalonic acidurias;Fowler;J. Inherit. Metab. Dis.,2008

Cited by 6 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. Identifying and predicting the pathogenic effects of a novel variant inducing severe early onset MMA: a bioinformatics approach;Hereditas;2023-05-29

2. Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis;Cell Reports Medicine;2022-07

3. Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria;Human Genetics;2021-11-18

4. Prenatal Diagnosis of Inherited Disorders of Folate and Cobalamin Metabolism;Genetic Disorders and the Fetus;2021-04-20

5. Rapid screening of MMACHC gene mutations by high‐resolution melting curve analysis;Molecular Genetics & Genomic Medicine;2020-03-21