Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro alpha 2(I) chain and an EDS/OI clinical phenotype

Authors
Nicholls, AC Valler, D Wallis, S Pope, FM
Citation
Ac. Nicholls et al., Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro alpha 2(I) chain and an EDS/OI clinical phenotype, J MED GENET, 38(2), 2001, pp. 132-135
Citations number
16
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
JOURNAL OF MEDICAL GENETICS
ISSN journal
00222593 → ACNP
Volume
38
Issue
2
Year of publication
2001
Pages
132 - 135
Database
ISI
SICI code
0022-2593(200102)38:2<132:HFASSM>2.0.ZU;2-K