Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis

BACKGROUND: Hereditary haemochromatosis (HH) is a recessively-inherited disorder of iron over-absorption prevalent in Caucasian populations. Affected individuals for Type 1 HH are usually either homozygous for a cysteine to tyrosine amino acid substitution at position 282 (C282Y) of the HFE gene, or...

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Detalles Bibliográficos
Autores principales: King, Caitriona, Barton, David E
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Correspondence
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1684250/
https://www.ncbi.nlm.nih.gov/pubmed/17134494
http://dx.doi.org/10.1186/1471-2350-7-81

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1684250/
https://www.ncbi.nlm.nih.gov/pubmed/17134494
http://dx.doi.org/10.1186/1471-2350-7-81

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