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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...

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Detalles Bibliográficos
Autores principales:	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:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2013
Materias:	Short Clinical Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3682180/ https://www.ncbi.nlm.nih.gov/pubmed/23454272 http://dx.doi.org/10.1016/j.ejmg.2013.02.002

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