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Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs

Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1734933

Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs

About this item

Full title

Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs

Publisher

London: BMJ Publishing Group Ltd

Journal title

Journal of medical genetics, 2001-09, Vol.38 (9), p.632-636

Language

English

Formats

Publication information

Publisher

London: BMJ Publishing Group Ltd

More information

Scope and Contents

Contents

The prognosis depends on early diagnosis and therapeutic venesections. [...]population screening would allow early diagnosis during the asymptomatic phase and prophylactic treatment by repeated venesection to prevent the irreversible damage of iron overload, 3 but predictive diagnosis requires a well established phenotype-genotype correlation. Resu...

Alternative Titles

Full title

Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1734933

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1734933

Other Identifiers

ISSN

0022-2593,1468-6244

E-ISSN

1468-6244

DOI

10.1136/jmg.38.9.632

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