The mutation described here has been detected in the DNA of a female cystic fibrosis (CF) patient born in May 1963. CF has been diagnosed only at the age of 30 years and has been confirmed by three positive sweat tests. She does not require supplementation with pancreatic enzymes and her pulmonary f
✦ LIBER ✦
A missense mutation (G197→A) in theα-l-fucosidase gene of fucosidosis patients leads to loss ofα-l-fucosidase
✍ Scribed by Meiheng Yang; Howard Allen; Hisao Fukushima; Richard A. DiCioccio
- Publisher
- Springer US
- Year
- 1994
- Tongue
- English
- Weight
- 329 KB
- Volume
- 1
- Category
- Article
- ISSN
- 1573-4986
No coin nor oath required. For personal study only.
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