12号染色体部分单体的一例新病例，del(12)(p11.01至p12.109)，证实乳酸脱氢酶B基因的位置
[A new case of partial monosomy of chromosome 12,del(12)(p11.01 to p12.109) confirming the location of the gene for lactate dehydrogenase B].
作者信息
Boilly-Dartigalongue B, Rivière D, Junien C, Couturier J, Toudic L, Marie F, Castel Y
出版信息
Ann Genet. 1985;28(1):55-7.
PMID:3874590
Abstract
A new case of partial monosomy of the short arm of chromosome 12 is described in a 17-year-old girl and compared with other observations reported in the literature. The breakpoints were localized to region 12p11----12p.12.1. Qualitative and quantitative activity of LDHB allowed a precise assignment of the structural gene to sub-band 12p12.2.
摘要
本文描述了一名17岁女孩的12号染色体短臂部分单体综合征新病例，并与文献中报道的其他观察结果进行了比较。断点定位于12p11区域至12p.12.1区域。乳酸脱氢酶B（LDHB）的定性和定量活性使结构基因能够精确定位于12p12.2亚带。
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