Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype
about
1-Deoxysphingolipids Encountered Exogenously and Made de Novo: Dangerous Mysteries inside an EnigmaHSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.Natural history and biomarkers in hereditary sensory neuropathy type 1Human genetic disorders of sphingolipid biosynthesis.The pyridoxal 5'-phosphate (PLP)-dependent enzyme serine palmitoyltransferase (SPT): effects of the small subunits and insights from bacterial mimics of human hLCB2a HSAN1 mutationsWhole-exome sequencing in patients with inherited neuropathies: outcome and challenges.Localization of 1-deoxysphingolipids to mitochondria induces mitochondrial dysfunction.Genetic studies of human neuropathic pain conditions: a review.Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro
P2860
Q26830485-AA8FA709-F7F8-4375-BBEE-2A7DA2C6BDBFQ30382642-D5A2AC3D-434A-4C0A-A3D5-88BEBAE0B932Q35795032-57529589-8ABD-49B8-BF5E-5DDC0630A1E1Q38241672-5F575F11-336B-41C4-9519-B96E5031A2B3Q42663096-09DB4103-52F1-4B7A-9D27-8C89B6A9E6C3Q44303948-3B6B6DC4-D419-4471-9F63-A8E21C2E341FQ46455308-A8142C32-2732-410E-B34F-71377DB76932Q55240474-2D58A310-7F0E-4A33-8063-75FEA5E15487Q58778251-77704089-1E61-40BA-9726-44F821A633B2
P2860
Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype
description
2013 nî lūn-bûn
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2013年の論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年论文
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2013年论文
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2013年论文
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name
Mutations at Ser331 in the HSN ...... a distinct syndromic phenotype
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type
label
Mutations at Ser331 in the HSN ...... a distinct syndromic phenotype
@en
prefLabel
Mutations at Ser331 in the HSN ...... a distinct syndromic phenotype
@en
P2093
P2860
P1476
Mutations at Ser331 in the HSN ...... a distinct syndromic phenotype
@en
P2093
Dirk Fischer
Elisabeth Graf
Franz Grill
Gerda Vacariu
Heiko Bode
Maria Schabhüttl
Rainer Seidl
Reinhard Schuh
Thomas R Pieber
Thomas Wieland
P2860
P304
P356
10.1016/J.EJMG.2013.02.002
P577
2013-02-27T00:00:00Z