A 931 + 2T-->C transition in one COL1A2 allele causes exon 16 skipping in PRO alpha 2(I) mRNA and produces moderately severe OI.
Hum Mutat
; 6(3): 268-71, 1995.
Article
in En
| MEDLINE
| ID: mdl-8535451
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Osteogenesis Imperfecta
/
RNA, Messenger
/
Collagen
Type of study:
Etiology_studies
Limits:
Adult
/
Female
/
Humans
Language:
En
Journal:
Hum Mutat
Journal subject:
GENETICA MEDICA
Year:
1995
Document type:
Article
Affiliation country:
Italia