IDENTIFICATION OF THE LINKAGE OF MUTATIONS CAUSING CYSTIC-FIBROSIS TODIFFERENT ALLELES OF A TETRANUCLEOTIDE REPEAT IN INTRON 6A OF THE CFTR GENE

Authors
POTAPOVA OY VORONINA OV GAITSKHOKI VS BOGACHEVA EV UEMBITSKAYA TE KUPRINA EA KAPRANOV NI BERLIN YA SCHWARTZ EI
Citation
Oy. Potapova et al., IDENTIFICATION OF THE LINKAGE OF MUTATIONS CAUSING CYSTIC-FIBROSIS TODIFFERENT ALLELES OF A TETRANUCLEOTIDE REPEAT IN INTRON 6A OF THE CFTR GENE, Biochemical medicine and metabolic biology, 51(2), 1994, pp. 185-187
Citations number
12
Categorie Soggetti
Medicine, Research & Experimental",Biology
Journal title
Biochemical medicine and metabolic biology → ACNP
ISSN journal
08854505
Volume
51
Issue
2
Year of publication
1994
Pages
185 - 187
Database
ISI
SICI code
0885-4505(1994)51:2<185:IOTLOM>2.0.ZU;2-Y
Abstract
The linkage of the intragenic polymorphic (GATT)(n) repeat to a number of cystic fibrosis transmembrane conductance regulator gene mutations (Delta F-508, G542X, G551D, R553X, R1162X, W1282X, N1303K, R334W, and R347P) was studied. The linkage of Delta F-508, G542X, and N1303K to a six-copy allele and of R334W to a seven-copy allele of the repeat wa s found. (C) 1994 Academic Press, Inc.