Mona M Ibrahim
Fateen E, El Mawgoud H, Eissa N, Ibrahim M, Aglan M, Essawi M. Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease. Gene. 2017;600:48-54 pubmed publisher
..The p.Q12X and p.Y254X were associated with severe MPS IVA phenotype. Molecular analysis of GALNS gene revealed four novel mutations in four different Morquio A Egyptian patients. ..