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Article

The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability.

Human mutation - 1 Jan 1999

Tachibana A, Kato T, Ejima Y, Yamada T, Shimizu T, Yang L, Tsunematsu Y, Sasaki M S

Abstract excerpt

Fanconi anemia (FA), an autosomal recessive disorder characterized by a progressive pancytopenia associated with congenital anomalies and high predisposition to malignancies, is a genetically and clinically heterogeneous disease. At least eight complementation groups (FA-A to FA-H) have been identified with their relative prevalence varying among the ethnical backgrounds. Recently, responsible genes, FANCA and...

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Source

Identifiers

PMID: 10090479
DOI: 10.1002/(SICI)1098-1004(1999)13:3<237::AID-HUMU8>3.0.CO;2-F

Genes

FANCA
FANCC

Provenance

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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