VlachosA,KleinGW,LiptonJM.The Diamond Blackfan anemia registry:tool for investigating the epidemiology and biology of Diamond-Blackfan anemia[J].J Pediatr Hematol Oncol,2001,23(6):377-382.DOI:10.1097/00043426-200108000-00015. [4] VlachosA,...
Immune responses need to be controlled tightly to prevent autoimmune diseases, yet underlying molecular mechanisms remain partially understood. Here, we identify biallelic mutations in three patients from two unrelated families indifferentially expressed in FDCP6 homolog (DEF6)as the molecular cause of an...
The epidermal differentiation complex (EDC) comprises a large number of genes that are of crucial importance for the maturation of the human epidermis. So ... I Marenholz,M Zirra,DF Fischer,... - 《Genome Research》 被引量: 212发表: 2001年 Frameshift mutation in the V2 domain of human ...
CARD15 and Crohn's Disease: Healthy Homozygous Carriers of the 3020insC Frameshift Mutation Single nucleotide variations in the CARD15 gene have recently been shown to be associated with Crohn's disease (CD). Of special interest is a cytosine inse... KVD Linde,PPC Boor,JJ Houwing-Duistermaat...