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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1992-1-3
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pubmed:abstractText |
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).
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
0340-6717
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
88
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pubmed:geneSymbol |
LAMP A,
LAMP B
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
95-7
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:1959930-Antigens, CD,
pubmed-meshheading:1959930-Blotting, Southern,
pubmed-meshheading:1959930-Chromosome Mapping,
pubmed-meshheading:1959930-Chromosomes, Human, Pair 13,
pubmed-meshheading:1959930-Genetic Linkage,
pubmed-meshheading:1959930-Humans,
pubmed-meshheading:1959930-Lysosomal Storage Diseases,
pubmed-meshheading:1959930-Lysosome-Associated Membrane Glycoproteins,
pubmed-meshheading:1959930-Lysosomes,
pubmed-meshheading:1959930-Membrane Glycoproteins,
pubmed-meshheading:1959930-N-Acetylneuraminic Acid,
pubmed-meshheading:1959930-Sialic Acids,
pubmed-meshheading:1959930-X Chromosome
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pubmed:year |
1991
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pubmed:articleTitle |
Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease.
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pubmed:affiliation |
Department of Medical Genetics, University of Turku, Finland.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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