✦ LIBER ✦

A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients

✍ Scribed by Thierry Bienvenu; Dominique Hubert; Eric Setbon; Daniel Dusser; Jean-Claude Kaplan; Cherif Beldjord

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 106 KB
Volume: 7
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1996)7:2<182::aid-humu19>3.0.co;2-z

No coin nor oath required. For personal study only.

✦ Synopsis

MUTATION NOTES

nucleotides downstream the original splice site in intron 3. Assuming that this would be used in the patient as donor splice site, the inclusion of 4 intronic nucleotides, frameshift, and thereby an immediate termination of translation would occur, most likely resulting in a null allele.

📜 SIMILAR VOLUMES

A novel nonsense mutation, S434X, in exo

A novel nonsense mutation, S434X, in exon 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

✍ H. Mittre; A. Bahlous; N. Leporrier; P. Leymarie 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 2 views

A novel nonsense mutation, S434X,

A new frameshift mutation 460delG in exo

A new frameshift mutation 460delG in exon 4 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

✍ Klaus Wagner; Petra Schneditz; Walter Rosenkranz 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 112 KB 👁 1 views

The mutation described here has been detected in the DNA of a female cystic fibrosis (CF) patient born in May 1963. CF has been diagnosed only at the age of 30 years and has been confirmed by three positive sweat tests. She does not require supplementation with pancreatic enzymes and her pulmonary f

A novel splice mutation, 4006-1G>A, in i

A novel splice mutation, 4006-1G>A, in intron 21 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

✍ H. Mittre; J.F. Duhamel; G. Abeguile; M. Lemaire; P. Leymarie 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 1 views

Identification of three novel mutations

Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients

✍ Thierry Bienvenu; Lilien Chertkoff; Cherif Beldjord; Edgardo Segal; Luis Carnigl 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 219 KB 👁 2 views

Identification of a novel mutation, 1087

Identification of a novel mutation, 1087delT, in exon 7 of the CFTR gene in a patient with cystic fibrosis

✍ Marie-Noëlle Feuillet-Fieux; Isabelle Sermet; Aleksander Edelman; Tania Torossi; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 2 views

Identification of a novel mutation (525d

Identification of a novel mutation (525del T) in exon 4 of the CFTR gene in a patient with cystic fibrosis

✍ Jelena Kušic; Dragica Radojkovic; Harry Cuppens; Martine Jaspers; Jelena Tomic; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 13 KB 👁 1 views