Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe.

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作者信息

Gal A, Beck M, Sewell A C, Morris C P, Schwinger E, Hopwood J J

机构信息

Institut für Humangenetik der Medizinischen Universität, Lübeck, Germany.

出版信息

J Inherit Metab Dis. 1992;15(3):342-6. doi: 10.1007/BF02435972.

DOI:10.1007/BF02435972

PMID:1357230

Abstract

摘要

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Genetic mapping of new RFLPs at Xq27-q28.Xq27-q28区域新限制性片段长度多态性的基因定位

Genomics. 1991 Jan;9(1):37-43. doi: 10.1016/0888-7543(91)90218-4.

Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II.II型黏多糖贮积症患者中亨特基因以及DXS466和DXS304的缺失

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