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76 Biochemical study of complex i deficient patient cell lines

✍ Scribed by Prasanth Potluri; Vincent Procaccio; Eduardo Ruiz-Pesini; Dan Mishmar; Antonio Davila; Kevin Tien; Richard Jimenez; Mariella Simon; Immo Scheffler; Douglas C. Wallace


Book ID
116751730
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
46 KB
Volume
7
Category
Article
ISSN
1567-7249

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Cultured skin fibroblasts from a 2-year-old boy with an atypical form of beta-galactosidase deficiency have been studied. With the artificial substrate 4-methylumbelliferyl-beta-D-galactopyranoside, 5--15% residual activity was found in fibroblasts from this patient. Most of this activity was in the