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Rapid diagnosis of asymptomatic hereditary haemochromatosis by detection of the Cys282Tyr mutation in the HLA-H gene.
Hereditary haemochromatosis is an autosomal recessive disorder characterised by life-long excessive accumulation of iron. A candidate gene for hereditary haemochromatosis has recently been reported (HLA-H) and a specific missense mutation (Cys282Tyr) has been identified in 85% of patients with the d...
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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BMJ Group
1997
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2431431/ https://ncbi.nlm.nih.gov/pubmed/9373599 |
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