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Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease.

作者信息

Schleutker J, Haataja L, Renlund M, Puhakka L, Viitala J, Peltonen L, Aula P

机构信息

Department of Medical Genetics, University of Turku, Finland.

出版信息

Hum Genet. 1991 Nov;88(1):95-7. doi: 10.1007/BF00204936.

Abstract

Salla disease is an inherited lysosomal storage disorder caused by accumulation of free sialic acid in the lysosomes. Lamp genes, lamp A and lamp B (lysosome associated membrane proteins), are the first known genes encoding for human lysosomal membrane proteins. Absence of linkage in a large group of families shows that lamp genes are not involved in Salla disease. The lamp genes were localized, using Southern hybridization in hamster--human hybrid cell panels, to chromosomes 13 (lamp A) and X (lamp B).

摘要

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