| http://purl.uniprot.org/citations/8193357 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8193357 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8193357 | http://www.w3.org/2000/01/rdf-schema#comment | "An animal model for human type I von Willebrand disease (vWD) has been previously described in the inbred mouse strain RIIIS/J. Murine vWD is characterized by a prolonged bleeding time, normal von Willebrand factor (vWF) multimer distribution, autosomal dominant inheritance, and proportionately decreased plasma vWF antigen, ristocetin cofactor, and factor VIII (FVIII) activities. To study the molecular genetics of murine vWD, a portion of the vWF gene surrounding exon 28 was cloned, sequenced, and used to develop two informative DNA sequence polymorphisms for rapid genotyping by DNA polymerase chain reaction. RIIIS/J mice were crossed with PWK/Ph mice, an inbred line of Mus musculus musculus, and the F1 progeny backcrossed to the parental PWK/Ph strain. vWF antigen levels in F1 mice were not significantly different from the parental RIIIS/J strain but were markedly decreased compared with the parental PWK/Ph mice. Genetic linkage analysis of 104 backcross progeny showed no correlation between vWF antigen level and vWF genotype. These data indicate that murine vWD is caused by a defect at a novel genetic locus, distinct from the murine vWF gene. The distribution of vWF antigen levels among backcross progeny suggests the presence of one major dominant vWD gene in the RIIIS/J mouse with possible modifying contributions from one or more additional minor loci. These observations may provide new insights into the molecular basis and variable expressivity of human vWD."xsd:string |
| http://purl.uniprot.org/citations/8193357 | http://purl.uniprot.org/core/author | "Yang A."xsd:string |
| http://purl.uniprot.org/citations/8193357 | http://purl.uniprot.org/core/author | "Yang A."xsd:string |
| http://purl.uniprot.org/citations/8193357 | http://purl.uniprot.org/core/author | "Ballew J.D."xsd:string |
| http://purl.uniprot.org/citations/8193357 | http://purl.uniprot.org/core/author | "Ballew J.D."xsd:string |
| http://purl.uniprot.org/citations/8193357 | http://purl.uniprot.org/core/author | "Nichols W.C."xsd:string |
| http://purl.uniprot.org/citations/8193357 | http://purl.uniprot.org/core/author | "Nichols W.C."xsd:string |
| http://purl.uniprot.org/citations/8193357 | http://purl.uniprot.org/core/author | "Ginsburg D."xsd:string |
| http://purl.uniprot.org/citations/8193357 | http://purl.uniprot.org/core/author | "Ginsburg D."xsd:string |
| http://purl.uniprot.org/citations/8193357 | http://purl.uniprot.org/core/author | "Mohlke K.L."xsd:string |
| http://purl.uniprot.org/citations/8193357 | http://purl.uniprot.org/core/author | "Mohlke K.L."xsd:string |
| http://purl.uniprot.org/citations/8193357 | http://purl.uniprot.org/core/author | "Novak E.K."xsd:string |
| http://purl.uniprot.org/citations/8193357 | http://purl.uniprot.org/core/author | "Novak E.K."xsd:string |
| http://purl.uniprot.org/citations/8193357 | http://purl.uniprot.org/core/author | "Swank R.T."xsd:string |
| http://purl.uniprot.org/citations/8193357 | http://purl.uniprot.org/core/author | "Swank R.T."xsd:string |
| http://purl.uniprot.org/citations/8193357 | http://purl.uniprot.org/core/author | "Reddington M."xsd:string |
| http://purl.uniprot.org/citations/8193357 | http://purl.uniprot.org/core/author | "Reddington M."xsd:string |
| http://purl.uniprot.org/citations/8193357 | http://purl.uniprot.org/core/author | "Cooney K.A."xsd:string |
| http://purl.uniprot.org/citations/8193357 | http://purl.uniprot.org/core/author | "Cooney K.A."xsd:string |
| http://purl.uniprot.org/citations/8193357 | http://purl.uniprot.org/core/author | "Bruck M.E."xsd:string |
| http://purl.uniprot.org/citations/8193357 | http://purl.uniprot.org/core/author | "Bruck M.E."xsd:string |
| http://purl.uniprot.org/citations/8193357 | http://purl.uniprot.org/core/date | "1994"xsd:gYear |
| http://purl.uniprot.org/citations/8193357 | http://purl.uniprot.org/core/date | "1994"xsd:gYear |