• Mutation; HGNC; HGNC:3582; FANCA; Simple; c.827_1225del399 (Ex10-13del); Zygosity=Heterozygous (PubMed=10094191).
  
• Mutation; HGNC; HGNC:3582; FANCA; Simple; p.Val372Alafs*42 (c.1111_1114TTGG[1]) (c.1115_1118delTTGG); ClinVar=VCV000003440; Zygosity=Heterozygous (PubMed=10094191).
  

PubMed=9713825; PMCID=PMC2230330
Pulsipher M., Kupfer G.M., Naf D., Suliman A., Lee J.-S., Jakobs P.M., Grompe M., Joenje H., Sieff C.A., Guinan E., Mulligan R.C., D'Andrea A.D.
Subtyping analysis of Fanconi anemia by immunoblotting and retroviral gene transfer.
Mol. Med. 4:468-479(1998)

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)