Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.
Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.
复制标题
核心家族中成骨不全症的可变表达可以通过亲本中 I 型胶原的 α 1(I) 基因 (COL1A1) 的致命点突变的体细胞嵌合来解释。
DOI：
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发表时间：
1990
影响因子：
9.8
通讯作者：
Byers,PH
中科院分区：
文献类型：
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作者：
Wallis,GA;Starman,BJ;Zinn,AB;Byers,PH
