Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

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Description scientific article
Author/s

author: Vincent Timmerman  Nathalie Verpoorten  Ines Dierick  Joy Irobi  Peter De Jonghe  Christian Windpassinger  Roland Malli  Michaela Auer-Grumbach  Luciano Merlini  Lionel Van Maldergem  Christos Proukakis 

Publication date March 2004
Language English
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