𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A mutation generating a stop codon in the α-L-fucosidase gene of a fucosidosis patient

✍ Scribed by Meiheng Yang; Howard Allen; Richard A. DiCioccio


Book ID
115765759
Publisher
Elsevier Science
Year
1992
Tongue
English
Weight
414 KB
Volume
189
Category
Article
ISSN
0006-291X

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


A 66-Basepair insertion in Exon 6 of the
✍ Hee Chan Seo; Meiheng Yang; Alex H. Kim; John S. O'Brien; Richard A. Dicioccio; 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 112 KB

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