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Cystic fibrosis in the Portuguese population: haplotype distribution and molecular pathology

✍ Scribed by Angela Duarte; Celeste Barreto; Luís Marques-Pinto; M. Carmo Tavares; Jorge Amil; Maximina Pinto; M. Lurdes Chieira; Sérgio Castedo; João Lavinha

Publisher
Springer
Year
1990
Tongue
English
Weight
230 KB
Volume
85
Category
Article
ISSN
0340-6717

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✍ Margit Nemeti; Elaine Louie; John P. Johnson; Zoltan Papp 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 177 KB

Hungarian cystic fibrosis (CF) families (n = 33) including 114 family members have been analysed for the presence of the delta F508 mutation within the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and have been haplotyped with probes for restriction fragment length polymorphisms