Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome.
作者信息
Plasilova M, Chattopadhyay C, Pal P, Schaub N A, Buechner S A, Mueller Hj, Miny P, Ghosh A, Heinimann K
出版信息
J Med Genet. 2004 Aug;41(8):609-14. doi: 10.1136/jmg.2004.019661.
Abstract
摘要
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