Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis.

scientific article

Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1016/J.GENE.2012.07.069
P698PubMed publication ID22890139
P5875ResearchGate publication ID230665700

P2093author name stringManuel Méndez
Alejandro Del-Castillo-Rueda
Luis-Antonio Alvarez-Sala-Walther
María-Isabel Moreno-Carralero
María-Josefa Morán-Jiménez
Nuria Cuadrado-Grande
Rafael Enríquez-de-Salamanca
P433issue1
P407language of work or nameEnglishQ1860
P921main subjectpatientQ181600
P304page(s)15-20
P577publication date2012-08-04
P1433published inGeneQ5531065
P1476titleMutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis.
P478volume508

Reverse relations

cites work (P2860)
Q45905043A novel mutation in the SLC40A1 gene associated with reduced iron export in vitro.
Q38162187An update on laboratory diagnosis of liver inherited diseases.
Q37364099Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features
Q48136475Causes of iron overload in blood donors - a clinical study.
Q38983679Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.
Q35100147Examining the clinical use of hemochromatosis genetic testing
Q30377611Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.
Q91962671Genetic Disorders Associated with Metal Metabolism
Q38240870Genetic diseases that predispose to early liver cirrhosis.
Q34097695Genome-wide association study identifies variants in PMS1 associated with serum ferritin in a Chinese population
Q88273092Haemochromatosis
Q53199534Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.
Q47134420Inducible and reversible phenotypes in a novel mouse model of Friedreich's Ataxia
Q26861531Mechanistic and regulatory aspects of intestinal iron absorption
Q31030085The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.
Q47793049Trace Elements and Healthcare: A Bioinformatics Perspective
Q90041254Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features
Q37187461Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

Search more.