Smith R
John Radcliffe Hospital, Oxford, UK.
Int J Exp Pathol. 1994 Aug;75(4):233-41.
The presumption that identification of the collagen gene mutations in OI would completely explain the phenotype is unjustified. Full understanding of this fragile bone syndrome will depend on the intelligent interpretation of both the biochemical abnormalities and the clinical features. Between these extremes there is a whole unexplored area of cell biology. To make further progress it seems that we shall have to pay as much attention to the phenotype as to the genotype.
认为确定成骨不全症中的胶原蛋白基因突变就能完全解释其表型的假设是不合理的。对这种脆性骨综合征的全面理解将取决于对生化异常和临床特征的明智解读。在这两个极端之间，存在着细胞生物学的一整个未被探索的领域。为了取得进一步进展，我们似乎必须对表型和基因型给予同样多的关注。
