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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...
| Autores principales: | , |
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| Formato: | Texto |
| Lenguaje: | English |
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BioMed Central
2006
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| 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 |