Publications:

Identification of candidate nonsense mutations of FVIII for ribosomal readthrough therapy.

Haematologica

Liu, Zhigang Z; Zhang, Yuan Y; Zhu, Min M; Zhang, Bin B

Publication Date: 2019-12

Variant appearance in text: FVIII: R795X

PubMed Link: 31004034

Variant Present in the following documents:

• Main text

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Clinical expression of Menkes disease in females with normal karyotype.

Orphanet Journal Of Rare Diseases

Møller, Lisbeth Birk LB; Lenartowicz, Malgorzata M; Zabot, Marie-Therese MT; Josiane, Arnaud A; Burglen, Lydie L; Bennett, Chris C; Riconda, Daniel D; Fisher, Richard R; Janssens, Sandra S; Mohammed, Shehla S; Ausems, Margreet M; Tümer, Zeynep Z; Horn, Nina N; Jensen, Thomas G TG

Publication Date: 2012-01-22

Variant appearance in text: F8: R795X

PubMed Link: 22264391

Variant Present in the following documents:

• Main text
• 1750-1172-7-6.pdf

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A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels.

Blood

Viel, Kevin R KR; Machiah, Deepa K DK; Warren, Diane M DM; Khachidze, Manana M; Buil, Alfonso A; Fernstrom, Karl K; Souto, Juan C JC; Peralta, Juan M JM; Smith, Todd T; Blangero, John J; Porter, Sandra S; Warren, Stephen T ST; Fontcuberta, Jordi J; Soria, Jose M JM; Flanders, W Dana WD; Almasy, Laura L; Howard, Tom E TE

Publication Date: 2007-05-01

Variant appearance in text: rs2228152

PubMed Link: 17209060

Variant Present in the following documents:

• Main text

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