Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT) gene-Reference-Cited by-同舟云学术

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT) gene

Published:2009-06 Issue:6 Volume:30 Page:918-925
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Feldhammer Matthew,Durand Stéphanie,Mrázová Lenka,Boucher Renée-Myriam,Laframboise Rachel,Steinfeld Robert,Wraith James E.,Michelakakis Helen,van Diggelen Otto P.,Hřebíček Martin,Kmoch Stanislav,Pshezhetsky Alexey V.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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