𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Frequency of the ΔF508 deletion and G551D, R553X and G542X mutations in Yugoslav CF patients

✍ Scribed by Branka Brukner Dabović; Dragica Radojković; Predrag Minić; Jovan Savić; Ana Savić


Publisher
Springer
Year
1992
Tongue
English
Weight
140 KB
Volume
88
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


A cystic fibrosis patient with ΔF508, G5
✍ Klaus Wagner; Ignaz Greil; Petra Schneditz; Michaela Pommer; Walter Rosenkranz 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 197 KB

In 1989 the gene responsible for cystic fibrosis (CF) was cloned (Riordan et al., 1989;Rommens et al., 1989). A deletion of 3 base pairs in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene resulting in the loss of the amino acid phenylalanine at position 508 of the enco

Genotype analysis for ΔF508, G551D and R
✍ 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

Deletion ΔF508 and haplotype analysis of
✍ L. Kádasi; J. Gécz; J. Matúšek; T. Krivušová; V. Ferák; M. Devoto; J. Hruškovič; 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 205 KB

Analysis of a sample of 50 unrelated cystic fibrosis (CF) patients and 46 nuclear families from Slovakia (Czechoslovakia) by the polymerase chain reaction and Southern hybridization revealed that the proportion of the delta F508 mutation was 58% in this population, and that the frequency of the B (i

Identification of a cytogenetic deletion
✍ Consuelo Climent; Miguel Ángel García-Pérez; Pablo Sanjurjo; José-Ignacio Ruiz-S 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 3 views

A deletion of at least 11.5 cM in the paternal X chromosome mapping between microsatellites DXS989 and DXS1003 and encompassing the genes for ornithine transcarbamylase (OTC), retinitis pigmentosa GTPase regulator (RPGR) and dystrophin, was associated with the loss of band Xp21 in a female patient w