Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease-Reference-Cited by-同舟云学术

Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease

Published:2008 Issue:3 Volume:29 Page:409-417
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Pecci Alessandro,Panza Emanuele,Pujol-Moix Núria,Klersy Catherine,Di Bari Filomena,Bozzi Valeria,Gresele Paolo,Lethagen Stefan,Fabris Fabrizio,Dufour Carlo,Granata Antonio,Doubek Michael,Pecoraro Carmine,Koivisto Pasi A.,Heller Paula G.,Iolascon Achille,Alvisi Patrizia,Schwabe Dirk,De Candia Erica,Rocca Bianca,Russo Umberto,Ramenghi Ugo,Noris Patrizia,Seri Marco,Balduini Carlo L.,Savoia Anna

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.20661/fullpdf

Reference35 articles.

1. Expression of the Nonmuscle Myosin Heavy Chain IIA in the Human Kidney and Screening for MYH9 Mutations in Epstein and Fechtner Syndromes

2. Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome

3. Genotype-phenotype correlation in MYH9-related thrombocytopenia

4. Hereditary macrothrombocytopathia, nephritis and deafness

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