[Procedure to identify gene abnormalities responsible for genetically inherited disease such as porphyrias].

Article

[Procedure to identify gene abnormalities responsible for genetically inherited disease such as porphyrias].

Nihon rinsho. Japanese journal of clinical medicine - 1 Jun 1995

Daimon M, Sasaki H

Abstract excerpt

Some genetically inherited diseases such as mitochondrial encephalomyopathies are caused by the very few mutations in the mitochondrial gene, but the diseases such as porphyrias are caused by many different mutations in the gene responsible for the disease. So, determining the genetical status of...

Topics

Alleles
Humans
Mutation
Nucleic Acid Hybridization
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Porphyrias

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