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

✍ Scribed by 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

Book ID: 121911329
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 928 KB
Volume: 56
Category: Article
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2013.02.002

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