SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies

Objective: To screen persons with dominantly inherited HSAN I and others with idiopathic sensory neuropathies for known mutations of SPTLC1 and RAB7. Patients: DNA was examined from well characterised individuals of 25 kindreds with adult onset HSAN I for mutations of SPTLC1 and RAB7; 92 patients wi...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Klein, C, Wu, Y, Kruckeberg, K, Hebbring, S, Anderson, S, Cunningham, J, Dyck, P, Klein, D, Thibodeau, S
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Group 2005
Gaiak:
Short Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1739730/
https://ncbi.nlm.nih.gov/pubmed/15965219
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.2004.050062
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