• Mutation; HGNC; HGNC:3582; FANCA; Simple; c.1360_1826del467 (Ex15-20del); Zygosity=Heterozygous (PubMed=10094191).
  
• Mutation; HGNC; HGNC:3582; FANCA; Simple; p.Phe1263del (c.3788_3790delTCT); ClinVar=VCV000041003; Zygosity=Heterozygous (PubMed=10094191).
  

PubMed=7662964; DOI=10.1182/blood.V86.6.2156.bloodjournal8662156
Hans Joenje, Jerome R. Lo ten Foe, Anneke B. Oostra, Carola G.M. van Berkel, Martin A. Rooimans, Traute Marianne Schroeder-Kurth, Rolf-Dieter Wegner, Johan J.P. Gille, Manuel Buchwald, Fre Arwert;
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
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)