Four novel mutations in the beta-galactosidase gene identified in infantile type of GM1 gangliosidosis


ÇELTİKÇİ B., Aydin H. I. , Sivri S., Sonmez M., Topcu M., ÖZKARA H. A.

CLINICAL BIOCHEMISTRY, cilt.45, ss.571-574, 2012 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Özet

Objectives: The aim of this study is to find out mutations of Turkish GM1 gangliosidosis patients and to make genotype-phenotype correlations.