Publication

Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I, X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions Nat Genet19:32-8 1998
PubMed ID: 9590285

Records Return:  (1) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM01774Male7 YR99probandDYSKERATOSIS CONGENITA, X-LINKED; DKC