Publications:

Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.

Bmc Medical Genomics

Kitayama, Kana K; Ishiguro, Tomoya T; Komiyama, Masaki M; Morisaki, Takayuki T; Morisaki, Hiroko H; Minase, Gaku G; Hamanaka, Kohei K; Miyatake, Satoko S; Matsumoto, Naomichi N; Kato, Masaru M; Takahashi, Toru T; Yorifuji, Tohru T

Publication Date: 2021-12-06

Variant appearance in text: ACVRL1: Pro424Leu

PubMed Link: 34872578

Variant Present in the following documents:

• Main text
• 12920_2021_Article_1139.pdf
• 12920_2021_1139_MOESM1_ESM.xlsx, sheet 2

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Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation.

The Journal Of Molecular Diagnostics : Jmd

McDonald, Jamie J; Gedge, Friederike F; Burdette, Allene A; Carlisle, James J; Bukjiok, Changkuoth Jock CJ; Fox, Michelle M; Bayrak-Toydemir, Pinar P

Publication Date: 2009-11

Variant appearance in text: ACVRL1: P424L

PubMed Link: 19767588

Variant Present in the following documents:

• Main text

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Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

Journal Of Medical Genetics

Prigoda, N L NL; Savas, S S; Abdalla, S A SA; Piovesan, B B; Rushlow, D D; Vandezande, K K; Zhang, E E; Ozcelik, H H; Gallie, B L BL; Letarte, M M

Publication Date: 2006-09

Variant appearance in text: ACVRL1: P424L

PubMed Link: 16690726

Variant Present in the following documents:

• Main text

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Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Journal Of Medical Genetics

Abdalla, S A SA; Letarte, M M

Publication Date: 2006-02

Variant appearance in text:

PubMed Link: 15879500

Variant Present in the following documents:

• Main text

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