IPN Mutations
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
|
