Publications:

EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).

European Journal Of Human Genetics : Ejhg

Porto, Graça G; Brissot, Pierre P; Swinkels, Dorine W DW; Zoller, Heinz H; Kamarainen, Outi O; Patton, Simon S; Alonso, Isabel I; Morris, Michael M; Keeney, Steve S

Publication Date: 2016-04

Variant appearance in text: HFE: Leu183Pro

PubMed Link: 26153218

Variant Present in the following documents:

• ejhg2015128a.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: Leu183Pro

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: Leu183Pro

PubMed Link: 22408404

Variant Present in the following documents:

• Main text
• ijms-13-01497.pdf

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Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.

Haematologica

Aguilar-Martinez, Patricia P; Grandchamp, Bernard B; Cunat, Séverine S; Cadet, Estelle E; Blanc, François F; Nourrit, Marlène M; Lassoued, Kaiss K; Schved, Jean-François JF; Rochette, Jacques J

Publication Date: 2011-04

Variant appearance in text: HFE: 548T>C; Leu183Pro

PubMed Link: 21228038

Variant Present in the following documents:

• Main text

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Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces.

Bmc Bioinformatics

Venselaar, Hanka H; Te Beek, Tim A H TA; Kuipers, Remko K P RK; Hekkelman, Maarten L ML; Vriend, Gert G

Publication Date: 2010-11-08

Variant appearance in text: HFE: Leu183Pro

PubMed Link: 21059217

Variant Present in the following documents:

• 1471-2105-11-548.pdf

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