Publications:

The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda.

Plos One

Farrell, Colin P CP; Overbey, Jessica R JR; Naik, Hetanshi H; Nance, Danielle D; McLaren, Gordon D GD; McLaren, Christine E CE; Zhou, Luming L; Desnick, Robert J RJ; Parker, Charles J CJ; Phillips, John D JD

Publication Date: 2016

Variant appearance in text: HFE: 843G>A

PubMed Link: 27661980

Variant Present in the following documents:

• Main text
• pone.0163322.pdf

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Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

International Journal Of Molecular Sciences

Santos, Paulo C J L PCJL; Krieger, Jose E JE; Pereira, Alexandre C AC

Publication Date: 2012

Variant appearance in text: HFE: Thr281Thr

PubMed Link: 22408404

Variant Present in the following documents:

• Main text
• ijms-13-01497.pdf

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Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

International Journal Of Molecular Sciences

Santos, Paulo C J L PC; Krieger, Jose E JE; Pereira, Alexandre C AC

Publication Date: 2012

Variant appearance in text: HFE: Thr281Thr

PubMed Link: 22408404

Variant Present in the following documents:

• Main text
• ijms-13-01497.pdf

View BVdb publication page