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Details on Person Inactivating PAPSS2 mutations in a patient with premature pubarche

Class:Id	LiteratureReference:3621763
_displayName	Inactivating PAPSS2 mutations in a patient with premature pubarche
_timestamp	2013-05-24 11:03:04
author	[Person:3621830] Noordam, Cees [Person:3621827] Dhir, Vivek [Person:3621809] McNelis, Joanne C [Person:3621803] Schlereth, Florian [Person:3621766] Hanley, Neil A [Person:3621820] Krone, Nils [Person:3621733] Smeitink, Jan A [Person:3621725] Smeets, Roel [Person:3621800] Sweep, Fred C G J [Person:3621837] Claahsen-van der Grinten, Hedi L [Person:3621834] Arlt, Wiebke
created	[InstanceEdit:3621807] Jassal, B, 2013-05-24
journal	N. Engl. J. Med.
pages	2310-8
pubMedIdentifier	19474428
title	Inactivating PAPSS2 mutations in a patient with premature pubarche
volume	360
year	2009
(literatureReference)	[FailedReaction:3560785] Defective PAPSS2 does not transfer PO4(2-) group from ATP to APS to form PAPS [Homo sapiens] [FailedReaction:3560794] Defective PAPSS2 does not transfer SO4(2-) group to ATP to form APS [Homo sapiens] [Pathway:3560796] Defective PAPSS2 causes SEMD-PA [Homo sapiens]
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