Ontology highlight
ABSTRACT:
SUBMITTER: Joshi R
PROVIDER: S-EPMC4444164 | biostudies-literature | 2015 May
REPOSITORIES: biostudies-literature
Joshi Ricky R Shvartsman Maya M Morán Erica E Lois Sergi S Aranda Jessica J Barqué Anna A de la Cruz Xavier X Bruguera Miquel M Vagace José Manuel JM Gervasini Guillermo G Sanz Cristina C Sánchez Mayka M
Molecular genetics & genomic medicine 20150306 3
Hereditary hemochromatosis (HH) type 3 is an autosomal recessive disorder of iron metabolism characterized by excessive iron deposition in the liver and caused by mutations in the transferrin receptor 2 (TFR2) gene. Here, we describe three new HH type 3 Spanish families with four TFR2 mutations (p.Gly792Arg, c.1606-8A>G, Gln306*, and Gln672*). The missense variation p.Gly792Arg was found in homozygosity in two adult patients of the same family, and in compound heterozygosity in an adult proband ...[more]