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A 931 + 2T → C transition in one COL1A2 allele causes exon 16 skipping in PROα2(I) mRNA and produces moderately severe OI
Author(s) -
Zolezzi Francesca,
Forlino Antonella,
Mottes Monica,
Valli Maurizia,
Sensi Alberto,
Calzolari Elisa,
Pignatti Pier Franco,
Cetta Giuseppe
Publication year - 1995
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.1380060315
Subject(s) - biology , humanities , exon , genetics , gene , art