Inherited Peripheral Neuropathies Mutation Database

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Reference

Title Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base sununit-1, cause hereditary sensory neuropathy type 1
Authors Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA
Reference Nat Genet 27: 309-312, 2001 (PubMed ID: 11242114 )
SPTLC1: (Cys133Tyr) (Cys133Trp) (Val144Asp)
Mutations

Reference

Title SPTLC1 is mutated in hereditary sensory neuropathy, type 1.
Authors Bejaoui K, Wu C, Scheffler MD, Haan G, Ashby P, Wu L, de Jong P, Brown RH Jr.
Reference Nat Genet 27: 261-262, 2001 (PubMed ID: 11242106 )
SPTLC1: (Cys133Tyr) (Cys133Trp)
Mutations

Reference

Title SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies.
Authors Klein CJ, Wu Y, Kruckeberg KE, Hebbring SJ, Anderson SA, Cunningham JM, Dyck PJ, Klein DM, Thibodeau SN, Dyck PJ
Reference J Neurol Neurosurg Psychiatry 76: 1022-1024, 2005 (PubMed ID: 15965219 )
SPTLC1: (Cys133Trp)
Mutations

Reference

Title Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).
Authors Houlden H, King R, Blake J, Groves M, Love S, Woodward C, Hammans S, Nicoll J, Lennox G, O'Donovan DG, Gabriel C, Thomas PK, Reilly MM
Reference Brain 129: 411-425, 2006 (PubMed ID: 16364956 )
SPTLC1: (Cys133Trp)
Mutations

Reference

Title Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese.
Authors Bi H, Gao Y, Yao S, Dong M, Headley AP, Yuan Y.
Reference Neuropathology 27: 429-433, 2007 (PubMed ID: 18018475 )
SPTLC1: (Cys133Trp)
Mutations

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