✦ LIBER ✦

Cystic fibrosis screening in neonates — measurement of immunoreactive trypsin and direct genotype analysis for ΔF508 mutation

✍ Scribed by J. Larsen; S. Campbell; E. B. Faragher; M. Götz; I. Eichler; S. Waldherr; K. Dobianer; J. Spona

Publisher: Springer
Year: 1994
Tongue: English
Weight: 508 KB
Volume: 153
Category: Article
ISSN: 0340-6997
DOI: 10.1007/bf02190660

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Analysis of 30 known cystic fibrosis mut

Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-ΔF508 chromosomes in Southern France

✍ Mireille Claustres; Marie Desgeorges; Paule Kjellberg; Catherine Tissot; Jacques 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 260 KB

We have analyzed 131 unrelated families from Southern France for 29 known cystic fibrosis (CF) mutations identified in 8 exons of the cystic fibrosis transmembrane regulator gene. All these mutations were detected by amplification of DNA by the polymerase chain reaction (PCR) followed by restriction

Genotype analysis for ΔF508, G551D and R

Genotype analysis for ΔF508, G551D and R553X mutations in children and young adults with cystic fibrosis with and without chronic liver disease

✍ Dr. Ann Duthie; Derek G. Doherty; Carolyn Williams; Robert Scott-Jupp; J. O. War 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 613 KB

Genetic factors have been implicated in the pathogenesis of liver disease in cystic fibrosis. To investigate whether liver disease is associated with particular mutations of the defective gene in cystic fibrosis, we have determined the frequencies of three mutations -AF508, G551D and R553X-in 111 ch