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Osteogenesis Imperfecta: The Molecular Basis of Clinical Heterogeneity a
Author(s) -
BYERS PETER H.,
BONADIO JEFFREY F.,
COHN DANIEL H.,
STARMAN BARBRA J.,
WENSTRUP RICHARD J.,
WILLING MARCIA C.
Publication year - 1988
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/j.1749-6632.1988.tb55324.x
Subject(s) - annals , medicine , gerontology , library science , history , classics , computer science
During the last six years we have attempted to determine the molecular basis of osteogenesis irnperfecta (01) by analyzing the collagenous proteins synthesized by dermal fibroblasts cultured from affected individuals, their parents, and other family members. During that time we have studied members of more than 400 unrelated families, or, we estimate, between one and five percent of all families with 01 in the United States. These studies have, along with those from other laboratories (see REFS. 1, 2 for reviews), provided molecular confirmation of the broad outline of clinical classification currently in use,' demonstrated the spectrum of mutations in collagen genes that give rise to clinically distinct forms of 01, helped to understand how mutations result in alterations in collagen metabolism, demonstrated that the study of proteins is an essential first step in the analysis of collagen mutations, and revealed a number of surprises about the nature of inheritance of different forms of 01. In this