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Article

Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients.

Journal of human genetics - 1 Jan 1999

Nakamura A, Matsuura S, Tauchi H, Hanada R, Ohashi H, Hasegawa T, Honda K, Masuno M, Imaizumi K, Sugita K, Ide T, Komatsu K

Abstract excerpt

Fanconi anemia (FA) is an autosomal recessive disorder characterized by pancytopenia, predisposition to cancers, and a diverse variety of congenital malformations. At least eight complementation groups, A through H, have been described. Recently, the FA-A gene (FAA) has been isolated, and a large number of distinct mutations reported in ethnically diverse FA-A patients. Here, we report on the mutation analysis of...

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Identifiers

PMID: 9929978
DOI: 10.1007/s100380050106

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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