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Irish Child Health Database - Peer Reviewed Papers

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Irish Child Health Database » Study Papers » Descriptive Studies - Measuring aspects of effectiveness » Study assessing the practice and/or knowledge of targeted professional or parent » Practice/knowledge - Symptoms, signs and abonormal clinical and laboratory findings not elses were classified-haemochromatosis

Practice/knowledge - Symptoms, signs and abonormal clinical and laboratory findings not elses were classified-haemochromatosis

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

This study aimed to explore current practice in the molecular diagnosis of haemochromatosis and draft guidelines were prepared using the template developed by the United Kingdom Clinical Molecular Genetics Society

Abstract:

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 compound heterozygotes for C282Y and for a histidine to aspartic acid change at position more...

International Classification:

Practice/knowledge - Symptoms, signs and abonormal clinical and laboratory findings not elses were classified-haemochromatosis

Categories:

molecular diagnosis of haemochromatosis

Geography:

Republic of Ireland

BMC Med Genet, Vol: 7 Page: 81 2006
C. King; D. E. Barton

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