Biochemical and molecular characterization of mutant hexosaminidase A in a Turkish family
PEDIATRICS INTERNATIONAL, cilt.45, sa.1, ss.16-22, 2003 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 45 Sayı: 1
- Basım Tarihi: 2003
- Doi Numarası: 10.1046/j.1442-200x.2003.01669.x
- Dergi Adı: PEDIATRICS INTERNATIONAL
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.16-22
- Hacettepe Üniversitesi Adresli: Evet
Özet
Background : Tay-Sachs disease is a form of monosialoganglioside triaose (GM2) gangliosidosis that results from the mutations in the alpha-subunit gene of hexosaminidase A. In the B1 variant, the active site of the alpha-subunit of the enzyme is thought to be affected. In the present study, a patient who had previously been diagnosed as a B1 variant is further analyzed. The patient's parents and brother were also analyzed.