𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mild CFTR mutations and genetic predisposition to lactase persistence in cystic fibrosis

✍ Scribed by Mądry, Edyta; Fidler, Ewa; Sobczyńska-Tomaszewska, Agnieszka; Lisowska, Aleksandra; Krzyżanowska, Patrycja; Pogorzelski, Andrzej; Minarowski, Łukasz; Oralewska, Beata; Mojs, Ewa; Sapiejka, Ewa


Book ID
109849477
Publisher
Nature Publishing Group
Year
2011
Tongue
English
Weight
233 KB
Volume
19
Category
Article
ISSN
1018-4813

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Mutations and sequence variations detect
✍ Lap-Chee Tsui 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 616 KB

Cystic fibrosis is the most common autosomal disorder in the Caucasian population. Since the description of the major mutation of this disease in 1989, over 150 of additional mutations have been identified in the CFTR gene. This update summarizes the different mutations identified and reported befor

Discrimination between recurrent mutatio
✍ Jochen Reiss; David N. Cooper; Jerzy Bal; Ryszard Slomski; Garry R. Cutting; Mic 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 583 KB

A total of 75 non-AF508 chromosomes from 59 German cystic fibrosis patients was screened for mutations in exon 11 of the cystic fibrosis (CFTR) gene. These Caucasian patients were found to possess an identical haplotype background for two common mutations (G551D, R553X) constistent with their being