• Mutation; HGNC; HGNC:3582; FANCA; Simple; p.Gln772Ter (c.2314C>T); ClinVar=VCV000656626; Zygosity=Homozygous (PubMed=10468606).
  

PubMed=10468606; DOI=10.1073/pnas.96.18.10320; PMCID=PMC17886
Quinten Waisfisz, Johan P. de Winter, Frank A.E. Kruyt, Jan de Groot, Laura van der Weel, Lonneke M. Dijkmans, Yu Zhi, Fre Arwert, Riekeld J. Scheper, Hagop Youssoufian, Maureen E. Hoatlin, Hans Joenje;
A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA.
Proc. Natl. Acad. Sci. U.S.A. 96:10320-10325(1999)

PubMed=12955722; DOI=10.1002/humu.9180
Maria Savino, Adriana Borriello, Maria d'Apolito, Maria Criscuolo, Maria Del Vecchio, Anna Monica Bianco, Michele Di Perna, Rita Calzone, Bruno Nobili, Adriana Zatterale, Leopoldo Zelante ...Show all 14 authors... , Hans Joenje, Fulvio Della Ragione, Anna Savoia; Show fewer authors
Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant.
Hum. Mutat. 22:338-339(2003)