• Mutation; HGNC; HGNC:3582; FANCA; Simple; p.Glu1254Ter (c.3760G>T); ClinVar=VCV000974261; Zygosity=Heterozygous (PubMed=10094191).
  

PubMed=9713825; PMCID=PMC2230330
Michael Pulsipher, Gary M. Kupfer, Dieter Naf, Ahmed Suliman, Jeng-Shin Lee, Petra M. Jakobs, Markus Grompe, Hans Joenje, Colin Anthony Sieff, Eva Guinan, Richard C. Mulligan, Alan David D'Andrea;
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
Mario Wijker, Neil V. Morgan, Sabine Herterich, Carola G.M. van Berkel, Alex J. Tipping, Hans-Joachim Gross, Johan J.P. Gille, Gerard Pals, Maria Savino, Cigdem Altay, Subburaman Mohan ...Show all 25 authors... , Inderjeet Dokal, Jamie Durrell Cavenagh, J. Marsh, Margreet van Weel, Juan J. Ortega, Dezso Schuler, Elena Samochatova, Marek W. Karwacki, Albert Nyemrlsz Bekassy, Manuel Abecasis, Wolfram Ebell, Mei Lan Kwee, Thomy J.L. de Ravel, Christopher G. Mathew; Show fewer authors
Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.
Eur. J. Hum. Genet. 7:52-59(1999)