Heterozygous factor XI deficiency associated with three novel mutations

Autor:	Geoffrey F. Savidge, Jacky Cutler, Gary W. Moore, Michael J. Mitchell, M P Smith, Simon Thompson, Elaine Jenkins ap Rees, Anwar Alhaq
Rok vydání:	1999
Předmět:	Genetics Mutation Sequence analysis Single-strand conformation polymorphism Hematology Biology medicine.disease_cause Molecular biology Loss of heterozygosity Exon Genotype medicine Missense mutation Factor XI
Zdroj:	British Journal of Haematology. 107:763-765
ISSN:	0007-1048
DOI:	10.1046/j.1365-2141.1999.01769.x
Popis:	To determine the utility of single-stranded conformation polymorphism (SSCP) analysis for screening mutations in the factor XI (fXI) gene, we investigated three patients with heterozygous factor XI deficiency. DNA sequence analysis confirmed three novel mutations; a CGC TGC (Arg308Cys) mutation in exon 9, a GCTGTT (Ala412Val) mutation in exon 11 and an AGC AGA (Ser576Arg) mutation in exon 15. We postulated on the structural implications of these missense mutations. Our results demonstrated that genotypic analysis is a useful tool for conclusive differentiation between heterozygous factor XI deficiency and normal subjects.
Databáze:	OpenAIRE
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