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

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

    Published 2013
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