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A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9
Author(s) -
Marsh Ashley P. L.,
Yap Patrick,
Tan Tiong,
Pope Kate,
White Susan M.,
Chong Belinda,
Mcgillivray George,
Boys Amber,
Stephenson Sarah E. M.,
Leventer Richard J.,
Stark Zornitza,
Lockhart Paul J.
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38076
Subject(s) - exome sequencing , exome , dna sequencing , table (database) , computational biology , mutation , genetics , biology , dna , computer science , gene , database