Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype

Mutations in the serine palmitoyltransferase subunit 1 (SPTLC1) gene are the most common cause of hereditary sensory neuropathy type 1 (HSN1). Here we report the clinical and molecular consequences of a particular mutation (p.S331Y) in SPTLC1 affecting a patient with severe, diffuse muscle wasting a...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Auer-Grumbach, Michaela, Bode, Heiko, Pieber, Thomas R., Schabhüttl, Maria, Fischer, Dirk, Seidl, Rainer, Graf, Elisabeth, Wieland, Thomas, Schuh, Reinhard, Vacariu, Gerda, Grill, Franz, Timmerman, Vincent, Strom, Tim M., Hornemann, Thorsten
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2013
Assuntos:
Short Clinical Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3682180/
https://ncbi.nlm.nih.gov/pubmed/23454272
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2013.02.002
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados