ALBERT — All Library Books, journals and Electronic Records Telegrafenberg

Hits per page

hit 1 - 1 | 1 hit

Sorting

Electronic Resource

A novel mutation in exon 3 of the CFTR gene (1993)

Guillermit, H. ; Jéhanne, M. ; Quéré, I. ; [et al.]

Springer

Human genetics 〈Berlin〉 91 (1993), S. 233-235

add to mindlist on the mindlist

Details

ISSN: 1432-1203

Source: Springer Online Journal Archives 1860-2000

Topics: Biology , Medicine

Notes: Abstract We have screened the 27 exons of the cystic fibrosis transmembrane conductance regulator gene in 87 non-ΔF508 chromosomes of Breton origin using the combined techniques of denaturing gradient gel electrophoresis and direct sequencing. By this process, we have detected a new missense mutation, G91R, which results in an arginine for glycine at codon 91. Three affected patients with a ΔF508/G91R genotype are pancreatic sufficient. Such observations could facilitate a better understanding of the functional importance of different regions of the encoded product and of the pathogenesis of the disease.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00218262

Permalink

	Location	Call Number	Expected	Availability

Others were also interested in ...

Paper (German National Licenses)

Fulltext

hit 1 - 1 | 1 hit