A Brazilian case of Bernard–Soulier syndrome with two distinct founder mutations-Reference-Cited by-同舟云学术

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A Brazilian case of Bernard–Soulier syndrome with two distinct founder mutations

Published:2017-07-27 Issue:1 Volume:4 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Kanda Kenji,Kunishima Shinji,Sato Aya,Abe Daisuke,Nishijima Setsuko,Ishigami Tsuyoshi

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/hgv201730.pdf

Reference18 articles.

1. Lopez JA, Andrews RK, Afshar-Kharghan V, Berndt MC . Bernard-Soulier syndrome. Blood 1998; 91: 4397–4418.

2. Savoia A, Balduini CL, Savino M, Noris P, Del Vecchio M, Perrotta S et al. Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. Blood 2001; 97: 1330–1335.

3. Noris P, Perrotta S, Bottega R, Pecci A, Melazzini F, Civaschi E et al. Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of gpib{alpha} (Bolzano mutation). Haematologica 2012; 97: 82–88.

4. Savoia A, Kunishima S, De Rocco D, Zieger B, Rand ML, Pujol-Moix N et al. Spectrum of the mutations in Bernard-Soulier syndrome. Hum Mutat 2014; 35: 1033–1045.

5. Andrews RK, Gardiner EE, Shen Y, Whisstock JC, Berndt MC . Glycoprotein Ib-IX-V. Int J Biochem Cell Biol 2003; 35: 1170–1174.

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