Premium
Absence of PMP22 coding region mutations in CMT1A duplication patients: Further evidence supporting gene dosage as a mechanism for charcot‐marie‐tooth disease type 1A
Author(s) -
Warner Laura E.,
Roa Benjamin B.,
Lupski James R.
Publication year - 1996
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/(sici)1098-1004(1996)8:4<362::aid-humu10>3.0.co;2-0
Subject(s) - human genetics , human genome , genetics , human disease , molecular genetics , gene duplication , genome , medicine , biology , gene