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Query author contributions in Reactome

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Details on Person Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies

Class:IdLiteratureReference:2285509
_displayNameTwenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies
_timestamp2012-05-28 12:16:00
author[Person:2285508] Santamaria, Raül
[Person:2285497] Chabás, Amparo
[Person:2285533] Coll, Maria Josep
[Person:2285521] Miranda, Clara Sa
[Person:2285518] Vilageliu, Lluďsa
[Person:2285522] Grinberg, Daniel
created[InstanceEdit:2285516] Jassal, B, 2012-05-28
journalHum. Mutat.
pages1060
pubMedIdentifier16941474
titleTwenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies
volume27
year2006
(literatureReference)[FailedReaction:2265534] Defective GLB1 does not hydrolyse a glycosaminoglycan [Homo sapiens]
[FailedReaction:9036061] Defective GLB1 does not hydrolyse linker chain(2) [Homo sapiens]
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No pathways have been reviewed or authored by Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies (2285509)