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Article

Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group.

Human mutation - 1 Jul 2009

Ali Abdullah Mahmood, Kirby Michelle, Jansen Michael, Lach Francis P, Schulte Jennifer, Singh Thiyam Ramsing, Batish Sat D, Auerbach Arleen D, Williams David A, Meetei Amom Ruhikanta

Abstract excerpt

Fanconi anemia (FA) is a rare autosomal recessive or X-linked disorder characterized by aplastic anemia, cancer susceptibility and cellular sensitivity to DNA crosslinking agents. Eight FA proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL and FANCM) and three non-FA proteins (FAAP100, FAAP24 and HES1) form an FA nuclear core complex, which is required for monoubiquitination of the FANCD2-FANCI dimer upon...

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Source

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Identifiers

PMID: 19405097
DOI: 10.1002/humu.21032
PMCID: PMC2760491

Genes

FANCL
FAAP24
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCM
HES1

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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