Autosomal recessive von Willebrand disease associated with compound heterozygosity for a novel nonsense mutation (2908 del C) and the missense mutation C2362F: definite evidence for the non-penetrance of the C2362F mutation.
about
Pregnancy and delivery in women with von Willebrand's disease and different von Willebrand factor mutations.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.The molecular genetics of von Willebrand disease
P2860
Autosomal recessive von Willebrand disease associated with compound heterozygosity for a novel nonsense mutation (2908 del C) and the missense mutation C2362F: definite evidence for the non-penetrance of the C2362F mutation.
description
2007 nî lūn-bûn
@nan
2007 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Autosomal recessive von Willeb ...... trance of the C2362F mutation.
@ast
Autosomal recessive von Willeb ...... trance of the C2362F mutation.
@en
type
label
Autosomal recessive von Willeb ...... trance of the C2362F mutation.
@ast
Autosomal recessive von Willeb ...... trance of the C2362F mutation.
@en
prefLabel
Autosomal recessive von Willeb ...... trance of the C2362F mutation.
@ast
Autosomal recessive von Willeb ...... trance of the C2362F mutation.
@en
P2093
P356
P1476
Autosomal recessive von Willeb ...... etrance of the C2362F mutation
@en
P2093
Bernardi M
Bertoncello K
Castaman G
Rodeghiero F
P304
P356
10.1002/AJH.20803
P577
2007-05-01T00:00:00Z