Загрузка...

The nature of mutation in Krabbe disease.

Galactosylceramide beta-galactosidase cross reacting material was demonstrated in brain, liver, and skin fibroblasts from patients with Krabbe disease. The mutant enzyme was antigenically identical to the normal enzyme and exhibited similar electrophoretic mobility. Normal quantities of the catalyti...

Полное описание

Сохранить в:
Библиографические подробности
Главные авторы: Ben-Yoseph, Y, Hungerford, M, Nadler, H L
Формат: Artigo
Язык:Inglês
Опубликовано: 1978
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1685874/
https://ncbi.nlm.nih.gov/pubmed/85413
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!