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Inherited susceptibility to pre B-ALL caused by germline transmission of PAX5 c.547GA

  • A single-nucleotide polymorphism (SNP) in PAX5 leading to an amino-acid change in the octapeptide domain at position c.547G>A (p.Gly183Ser) has recently been described to confer an inherited susceptibility for childhood pre B-ALL. This susceptibility was transmitted autosomal dominant in two independent families with variable penetrance and aberrations of chromosomal part 9p resulting in loss of the wild-type (wt) PAX5 allele occurruring simultaneously in the leukemic cells.

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Document Type:Article
Author:F. Auer, F. Rüschendorf, M. Gombert, P. Husemann, S. Ginzel, S. Izraeli, M. Harit, M. Weintraub, O. Y. Weinstein, I. Lerer, P. Stepensky, A. Borkhardt, J. Hauer
Parent Title (English):Leukemia
First Page:1136
Last Page:1138
Pubmed Id:
Publisher:Macmillan Publishers
Date of first publication:2013/11/29
Tag:Female; Genetic Predisposition to Disease; Humans; Male; Pedigree; Polymorphism, Single Nucleotide; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/genetics
Departments, institutes and facilities:Fachbereich Informatik
Dewey Decimal Classification (DDC):6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Entry in this database:2015/04/02