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The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.
Hum Genet. 2005 Sep;117(5):467-75. doi: 10.1007/s00439-005-1307-y. Epub 2005 Jun 18.
Hum Genet. 2005.
PMID: 15965644
Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.
Le Gac G, Dupradeau FY, Mura C, Jacolot S, Scotet V, Esnault G, Mercier AY, Rochette J, Férec C.
Le Gac G, et al.
Blood Cells Mol Dis. 2003 May-Jun;30(3):231-7. doi: 10.1016/s1079-9796(03)00036-6.
Blood Cells Mol Dis. 2003.
PMID: 12737937
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Compound heterozygous C282Y/Q283P and Q283P/H63D mutations in haemochromatosis.
van Gammeren A, de Baar E, Schrauwen L, van Wijngaarden P.
van Gammeren A, et al.
Br J Haematol. 2015 Nov;171(4):650-1. doi: 10.1111/bjh.13417. Epub 2015 Apr 8.
Br J Haematol. 2015.
PMID: 25850353
Free article.
No abstract available.
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