Exclusion of the stomatin, alpha-adducin and beta-adducin loci in a large kindred with dehydrated hereditary stomatocytosis

Autor:	D S, Innes, J H, Sinard, D M, Gilligan, L M, Snyder, P G, Gallagher, J S, Morrow
Rok vydání:	1999
Předmět:	Genotype Genetic Diseases Inborn Erythrocytes Abnormal Humans Membrane Proteins Calmodulin-Binding Proteins Blood Proteins Anemia Hemolytic Congenital Alleles Pedigree
Zdroj:	American journal of hematology. 60(1)
ISSN:	0361-8609
Popis:	Defects in stomatin, alpha-adducin, and beta-adducin have been implicated in erythrocyte disorders of cation permeability. We performed linkage analysis of the genetic loci for these proteins in a large kindred with xerocytosis (dehydrated hereditary stomatocytosis). Using polymerase chain reaction-based genotyping techniques, all three loci are excluded as disease gene candidates.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::a1357d4c60e0bbc6880b493fc5627e2e https://pubmed.ncbi.nlm.nih.gov/9883810 Zobrazit plný text záznamu Plný text