Загрузка...

Assessing the severity of the small inframe deletion mutation in the α-subunit of β-hexosaminidase A found in the Turkish population by reproducing it in the more stable β-subunit

GM(2) gangliosidoses are a group of panethnic lysosomal storage diseases in which GM(2) ganglioside accumulates in the lysosome due to a defect in one of three genes, two of which encode the α- or β-subunits of β-N-acetylhexosaminidase (Hex) A. A small inframe deletion mutation in the catalytic doma...

Полное описание

Сохранить в:
Библиографические подробности
Главные авторы: Sinici, İ, Tropak, M. B., Mahuran, D. J., Özkara, H. A.
Формат: Artigo
Язык:Inglês
Опубликовано: 2004
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2910077/
https://ncbi.nlm.nih.gov/pubmed/15505380
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1023/B:BOLI.0000045759.12935.76
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!