A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family
Titel:
A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family
Auteur:
Muzammal, Muhammad Ali, Muhammad Zeeshan Brugger, Beatrice Blatterer, Jasmin Ahmad, Safeer Taj, Sundas Shah, Syed Khizar Khan, Saadullah Enzinger, Christian Petek, Erwin Wagner, Klaus Khan, Muzammil Ahmad Windpassinger, Christian