Identification of three novel homozygous NAGLU mutations in Egyptian patients with Sanfilippo syndrome B

ConclusionsThis is the first study of NAGLU gene analysis in Egyptian patients with Sanfilippo type B that involved 3 novel homozygote mutations. This study could have valuable implications in genetic counseling and further clinical genetic studies of MPS IIIB syndrome.
Source: Meta Gene - Category: Genetics & Stem Cells Source Type: research