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Article

Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.

European journal of human genetics : EJHG - 1 Jan 1999

Wijker M, Morgan N V, Herterich S, van Berkel C G, Tipping A J, Gross H J, Gille J J, Pals G, Savino M, Altay C, Mohan S, Dokal I, Cavenagh J, Marsh J, van Weel M, Ortega J J, Schuler D, Samochatova E, Karwacki M, Bekassy A N, Abecasis M, Ebell W, Kwee M L, de Ravel T, CG Mathew

Abstract excerpt

Fanconi anaemia (FA) is a genetically heterogeneous autosomal recessive disorder associated with chromosomal fragility, bone-marrow failure, congenital abnormalities and cancer. The gene for complementation group A (FAA), which accounts for 60-65% of all cases, has been cloned, and is composed of an open reading frame of 4.3 kb, which is distributed among 43 exons. We have investigated the molecular pathology of...

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PMID: 10094191
DOI: 10.1038/sj.ejhg.5200248

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