两例近端14号染色体长臂三体患者红细胞和白细胞核苷磷酸化酶的倍半剂量效应（作者译）
[Sesquialter dosage effect of erythrocytic and leucocytic nucleoside phosphorylase in two patients with proximal trisomy 14q (author's transl)].
作者信息
Junien C, Kaplan J C, Raoul O, Rethoré M O, Rurleau C, de Grouchy J
出版信息
Ann Genet. 1980;23(2):86-8.
PMID:6772087
Abstract
Nucleoside phosphorylase activity was assayed in two previously reported patients with trisomy for the proximal portion of 14q. A sesquialter dosage effect was demonstrated in erythrocytes as well as in leucocytes. These results are in favor of an ubiquitous expression of the gene and confirm its assignment to 14q13.
摘要
对两名先前报道的14号染色体长臂近端三体患者的核苷磷酸化酶活性进行了检测。在红细胞和白细胞中均显示出1.5倍剂量效应。这些结果支持该基因的普遍表达，并证实其定位于14q13。
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