## Abstract For Abstract see ChemInform Abstract in Full Text.
Biochemical and Clinical Problems in Molecular Genetics
- Publisher
- John Wiley and Sons
- Year
- 1963
- Tongue
- English
- Weight
- 383 KB
- Volume
- 2
- Category
- Article
- ISSN
- 0044-8249
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Medicine is undergoing a quiet revolution. Molecular genetics is transforming clinical science and practice; the development of the Human Genome Project allows new methods of disease identification and of predicting disease patterns for individual patients. Knowledge of the human genome will deepen
## Communicated by Johannes Zschocke We retrospectively examined clinical and biochemical characteristics of 27 patients with isolated enzymatic complex I deficiency (established in cultured skin fibroblasts) in whom common pathogenic mtDNA point mutations and major rearrangements were absent. Clin
A new mutation of the G-6PD gene at position 910 is described. Biochemical analysis suggests that a conformational change results in the enzymatic deficiency associated with G-6PDWeS' Virg'n'a. o 1996 Wiley-Liss, Inc.