Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

scientific article

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome) is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1086/508294
P3181OpenCitations bibliographic resource ID4130851
P932PMC publication ID1698556
P698PubMed publication ID17033958
P5875ResearchGate publication ID6761263

P50authorThomas J. HudsonQ3525236
Lenka MrázováQ58881582
Robert IvánekQ63681463
Alexey V PshezhetskyQ114416669
Ben J H M PoorthuisQ130271093
Andrei VernerQ32653136
Jiri ZemanQ37377847
Jakub SikoraQ42408510
Ron A. WeversQ42739481
Viktor StráneckýQ53173427
Martin HrebicekQ53851265
Pshezhetsky AVQ55221684
David RoquisQ57578125
Kenneth MorganQ58199546
P2093author name stringVolkan Seyrantepe
Stéphanie Durand
Jacek Majewski
Stanislav Kmoch
Helena Poupetová
Nicole M Roslin
Pierre Lepage
T Mary Fujiwara
Lenka Nosková
Clare E Beesley
Hana Hartmannová
Otto P van Diggelen
Jana Urinovská
Irène Maire
Alena Cízkova
Jérome Ausseil
Jiddeke van de Kamp
Viktor Stranecký
P2860cites workHuman adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patientsQ22254579
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Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblastsQ24616088
Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8Q24676012
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Detection and integration of genotyping errors in statistical geneticsQ37360857
Sanfilippo type C disease: Clinical findings in four patients with a new variant of mucopolysaccharidosis IIIQ39659801
The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patientsQ40265949
Human acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase. Kinetic characterization and mechanistic interpretation.Q42081914
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An acetylated 120-kDa lysosomal transmembrane protein is absent from mucopolysaccharidosis IIIC fibroblasts: a candidate molecule for MPS IIIC.Q46809017
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P4510describes a project that useslimmaQ112236343
P433issue5
P407language of work or nameEnglishQ1860
P921main subjectC syndromeQ1022312
P304page(s)807-19
P577publication date2006-11-01
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleMutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)
P478volume79

Reverse relations

cites work (P2860)
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Q50335682Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands
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