• Mutation; HGNC; HGNC:3582; FANCA; Simple; c.597-2A>G (IVS6-2A>G); ClinVar=VCV000974288; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=10094191).
  

PubMed=7662964; DOI=10.1182/blood.V86.6.2156.bloodjournal8662156
Joenje H., Lo ten Foe J.R., Oostra A.B., van Berkel C.G.M., Rooimans M.A., Schroeder-Kurth T.M., Wegner R.-D., Gille J.J.P., Buchwald M., Arwert F.
Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype.
Blood 86:2156-2160(1995)

PubMed=10094191; DOI=10.1038/sj.ejhg.5200248
Wijker M., Morgan N.V., Herterich S., van Berkel C.G.M., Tipping A.J., Gross H.-J., Gille J.J.P., Pals G., Savino M., Altay C., Mohan S., Dokal I., Cavenagh J.D., Marsh J., van Weel M., Ortega J.J., Schuler D., Samochatova E., Karwacki M.W., Bekassy A.N., Abecasis M., Ebell W., Kwee M.L., de Ravel T.J.L., Mathew C.G.
Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.
Eur. J. Hum. Genet. 7:52-59(1999)