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Characterization and tissue distribution of N-acetyl hexosaminidase C: suggestive evidence for a separate hexosaminidase locus.

作者信息

Swallow D M, Evans L, Saha N, Harris H

出版信息

Ann Hum Genet. 1976 Jul;40(1):55-66. doi: 10.1111/j.1469-1809.1976.tb00164.x.

DOI:10.1111/j.1469-1809.1976.tb00164.x
PMID:9025
Abstract
  1. An electrophoretic system in which N-acetyl hexosaminidase C (HEX(C)) MIGRATES LESS ANODALLY THAN N-acetyl hexosaminidase A (HEX(A)) is described. 2. HEX(C) is shown to differ from HEX(A) and HEX(B) in substrate specificity, molecular size and affinity for Concanavalin-A. 3. HEX(C) is present in a wide range of adult and foetal tissues and in tissues from patients with Tay-Sachs and Sandhoff's diseases. It is particularly prominent in brain, testis, thymus and lymphoblastoid cell extracts and in several foetal tissues. 4. It is suggested that HEX(C) is coded at a separate gene locus from HEX(A) and HEX(B).
摘要

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1
Characterization and tissue distribution of N-acetyl hexosaminidase C: suggestive evidence for a separate hexosaminidase locus.
Ann Hum Genet. 1976 Jul;40(1):55-66. doi: 10.1111/j.1469-1809.1976.tb00164.x.
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[Genetic study of GM2 gangliosidosis (Tay-Sachs and Sandhoff) by the study of the hexosaminidases of the Sandhoff-rodents hybrids (mouse and hamster)].通过对桑德霍夫啮齿动物杂种（小鼠和仓鼠）的己糖胺酶研究进行GM2神经节苷脂沉积症（泰-萨克斯病和桑德霍夫病）的遗传学研究
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