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Article

Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP.

Human mutation - 1 Jan 2013

Schuster Beatrice, Knies Kerstin, Stoepker Chantal, Velleuer Eunike, Friedl Richard, Gottwald-Mühlhauser Birgit, de Winter Johan P, Schindler Detlev

Abstract excerpt

Fanconi anemia (FA) is a rare genetic disorder characterized by congenital malformations, progressive bone marrow failure (BMF), and susceptibility to malignancies. FA is caused by biallelic or hemizygous mutations in one of 15 known FA genes, whose products are involved in the FA/BRCA DNA damage response pathway. Here, we report on a patient with previously unknown mutations of the most recently identified FA...

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Source

Identifiers

PMID: 23033263
DOI: 10.1002/humu.22221

Genes

SLX4
BMF
EME1
ERCC1
MUS81

Provenance

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