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Mutation in Scheie syndrome (MPS IS): A G→A transition creates new splice site in intron 5 of one IDUA allele
Author(s) -
Moskowitz Samuel M.,
Tieu Phuong T.,
Neufeld Elizabeth F.
Publication year - 1993
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.1380020215
Subject(s) - library science , gerontology , medicine , computer science