An IVS32+1G→A mutation in a type I collagen gene, COL1A2, results in use of a rare AT/AC splice system and may ameliorate the osteogenesis imperfecta phenotype caused by exon-skipping.

被引：0
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作者：
Kuslich, CD [1 ]
Byers, PH [1 ]
机构：
[1] Univ Washington, Dept Pathol, Seattle, WA 98195 USA
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2000年 / 67卷 / 04期
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Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
1052
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页码：196 / 196
页数：1
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