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Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies
Author(s) -
Klein Andrea,
Lillis Suzanne,
Munteanu Iulia,
Scoto Mariacristina,
Zhou Haiyan,
Quinlivan Ros,
Straub Volker,
Manzur Adnan Y.,
Roper Helen,
Jeannet PierreYves,
Rakowicz Wojtek,
Jones David Hilton,
Jensen Uffe Birk,
Wraige Elizabeth,
Trump Natalie,
Schara Ulrike,
Lochmuller Hanns,
Sarkozy Anna,
Kingston Helen,
Norwood Fiona,
Damian Maxwell,
Kirschner Janbernd,
Longman Cheryl,
Roberts Mark,
AuerGrumbach Michaela,
Hughes Imelda,
Bushby Kate,
Sewry Caroline,
Robb Stephanie,
Abbs Stephen,
Jungbluth Heinz,
Muntoni Francesco
Publication year - 2012
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22136
Subject(s) - biology , mutation , genetics , regret , gene , ryanodine receptor , bioinformatics , receptor , machine learning , computer science