1型戈谢病：葡萄牙人群中N396T的鉴定及葡萄糖脑苷脂酶突变的患病率 - Suppr

Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.

作者信息

Amaral O, Pinto E, Fortuna M, Lacerda L, Sá Miranda M C

机构信息

Department of Enzymology, Instituto de Genética Médica Jacinto de Magalhäes Praça Pedro Nunes, Oporto, Portugal.

出版信息

Hum Mutat. 1996;8(3):280-1. doi: 10.1002/(SICI)1098-1004(1996)8:3<280::AID-HUMU15>3.0.CO;2-Z.

DOI:10.1002/(SICI)1098-1004(1996)8:3<280::AID-HUMU15>3.0.CO;2-Z

PMID:8889591

Abstract

摘要

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Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.

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Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.

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Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.

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