通过基因剂量研究证实肽酶A（PEPA）定位于18q23区域。
Confirmation of the regional assignment of peptidase A (PEPA) to 18q23 by gene dosage studies.
作者信息
Junien C, de Grouchy J, Turleau C, Serville F
出版信息
Ann Genet. 1980;23(2):89-90.
PMID:6994582
Abstract
Peptidase A (PepA) activity was measured in five patients with trisomy or monosomy of the distal portion of 18q. The ratio propositus/mean parent (sum of the values of the father and mother divided by two) showed a gene dosage effect, confirming the localization of the gene in 18q23.
摘要
在5名18号染色体长臂末端三体或单体患者中测量了肽酶A（PepA）活性。先证者/平均亲本比值（父亲和母亲的值之和除以2）显示出基因剂量效应，证实该基因定位于18q23。
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