Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: Under-representation of the common c.985 A > G mutation in the New York state population-Reference-Cited by-同舟云学术

Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: Under-representation of the common c.985 A > G mutation in the New York state population

Published:2008 Issue:5 Volume:146A Page:610-619
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Nichols Matthew J.,Saavedra-Matiz Carlos A.,Pass Kenneth A.,Caggana Michele

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference25 articles.

1. A silent A to G mutation in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene

2. Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency*

3. A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.

4. Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies

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2. Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation;Molecular Genetics and Metabolism;2016-12

3. Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges;International Journal of Neonatal Screening;2015-11-23

4. Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants;Journal of Inherited Metabolic Disease;2014-06-26

5. The Domain-Specific and Temperature-Dependent Protein Misfolding Phenotype of Variant Medium-Chain acyl-CoA Dehydrogenase;PLoS ONE;2014-04-09