Mutations at Ser331 in the HSN type I gene SPTLC1 are...

European Journal of Medical Genetics 2013 / 05 Vol. 56; Iss. 5

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

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, Vi
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Volume:
56
Language:
english
Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2013.02.002
Date:
May, 2013
File:
PDF, 928 KB
english, 2013
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