A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated-Reference-Cited by-同舟云学术

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A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated

Published:2009-01-09 Issue:2 Volume:10 Page:135-143
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Hornemann Thorsten,Penno Anke,Richard Stephane,Nicholson Garth,van Dijk Fleur S.,Rotthier Annelies,Timmerman Vincent,von Eckardstein Arnold

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-008-0168-7.pdf

Reference21 articles.

1. Auer-Grumbach M (2008) Hereditary sensory neuropathy type I. Orphanet J Rare Dis 3:7 doi: 10.1186/1750-1172-3-7

2. Dyck PJ (1993) Peripheral neuropathies. Saunders, Philadelphia, pp 1065–1093

3. Bejaoui K et al (2001) SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nat Genet 27:261–262 doi: 10.1038/85817

4. Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA (2001) Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet 27:309–312 doi: 10.1038/85879

5. Verhoeven K et al (2004) SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I. Neurology 62:1001–1002

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