Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia

Autor:	K. Valenti, F. Tricot-Guerber, T. Foulon, B. Saint-Jore, M. Bost, A. J. Hadjian
Rok vydání:	1995
Předmět:	Genetics Familial hypercholesterolemia Exons Biology medicine.disease Hyperlipoproteinemia Type II Exon Receptors LDL Mutation (genetic algorithm) Mutation medicine Humans Identification (biology) France Low Density Lipoprotein Receptor Gene Genetics (clinical) Polymorphism Restriction Fragment Length
Zdroj:	Human mutation. 6(1)
ISSN:	1059-7794
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::194a6c9273b223c5cd174c3802829acb https://pubmed.ncbi.nlm.nih.gov/7550239 Zobrazit plný text záznamu Plný text