Two new candidate mutations in type IIA von Willebrand's disease (Arg834--Gly, Gly846--Arg) and one polymorphism (Tyr821--Cys) in the A2 region of the von Willebrand factor

A transition, substituting arginine for glycine 846. The transition produces a sequence congruent with that of the pseudogene but several lines of evidence indicate that a sequencing error due to influence by the latter could be excluded. The remaining 6 patients had one of the earlier described substitution mutations: Ser743-->Leu and Ile865-->Thr. In addition, two sequence variations not linked to the phenotype were found, namely Tyr821-->Cys and Val802-->Leu. -->

ISSN:	0902-4441
Přístupová URL adresa:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e4a61e3548332c00ba88a02c221fb62 https://pubmed.ncbi.nlm.nih.gov/8348943
Rights:	CLOSED
Přírůstkové číslo:	edsair.doi.dedup.....9e4a61e3548332c00ba88a02c221fb62
Autor:	Lars Holmberg, Thorsen S, Björn Dahlbäck, Ann-Charlotte Kristoffersson, Erik Berntorp, Scheibel E, Inga Marie Nilsson, Mikael Donnér
Rok vydání:	1993
Předmět:	Adult Genetic Markers Male Arginine Adolescent Pseudogene Molecular Sequence Data Glycine Gene mutation medicine.disease_cause Polymerase Chain Reaction Von Willebrand factor Polymorphism (computer science) von Willebrand Factor medicine Humans Point Mutation Amino Acid Sequence Cysteine Child Gene Alleles Genetics Mutation Polymorphism Genetic Transition (genetics) biology Base Sequence Hematology General Medicine DNA Pedigree von Willebrand Diseases Oligodeoxyribonucleotides biology.protein Tyrosine Female
Zdroj:	Europe PubMed Central
ISSN:	0902-4441
Popis:	Recently, several von Willebrand factor gene mutations resulting in type IIA von Willebrand's disease have been reported. We examined 8 patients from Sweden and Denmark with this phenotype and found two new candidate mutations and a hitherto unknown amino acid polymorphism. One patient had a de novo occurring mutation resulting in substitution of glycine for arginine 834. Previous reports have demonstrated conversion of arginine 834 to tryptophan or glutamine in IIA patients. A 2nd patient had a G(4825)-->A transition, substituting arginine for glycine 846. The transition produces a sequence congruent with that of the pseudogene but several lines of evidence indicate that a sequencing error due to influence by the latter could be excluded. The remaining 6 patients had one of the earlier described substitution mutations: Ser743-->Leu and Ile865-->Thr. In addition, two sequence variations not linked to the phenotype were found, namely Tyr821-->Cys and Val802-->Leu.
Databáze:	OpenAIRE
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