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Article

[Molecular diagnosis of a kindred with novel mutation of methylmalonyl-CoA mutase gene using non-RI SSCP].

Rinsho byori. The Japanese journal of clinical pathology - 1 Jun 1995

Toyo-Oka Y, Wada C, Ohnuki Y, Takada F, Ohtani H

Abstract excerpt

A deficiency of methylmalonyl-CoA mutase (MCM) results in methylmalonic acidemia, which is inherited as an autosomal recessive disease and is characterized by accumulation of precursors and abnormal derivatives of methylmalonyl-CoA in body fluids. Abnormal splicing with 13 base pairs (bp) inserti...

Topics

Adult
Base Sequence
Family Health
Female
Humans
Infant, Newborn
Male
Methylmalonic Acid
Methylmalonyl-CoA Mutase
Molecular Sequence Data
Mutation
Polymorphism, Single-Stranded Conformational

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PMID: 7602808

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7602808-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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[Molecular diagnosis of a kindred with novel mutation of methylmalonyl-CoA mutase gene using non-RI SSCP].PMID 7602808Read ↗

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