✦ LIBER ✦

Mutation analysis of the cystic fibrosis and cationic trypsinogen genes in patients with alcohol-related pancreatitis

✍ Scribed by Monaghan, Kristin G. ;Jackson, Charles E. ;KuKuruga, Debra L. ;Feldman, Gerald L.

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 84 KB
Volume: 94
Category: Article
ISSN: 0148-7299
DOI: 10.1002/1096-8628(20000911)94:2<120::aid-ajmg4>3.0.co;2-n

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Analysis of cystic fibrosis transmembran

Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina

✍ Timmreck, Lorna S. ;Gray, Mark R. ;Handelin, Barbara ;Allito, Bernice ;Rohlfs, E 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 64 KB 👁 1 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 👁 1 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

Mutation analysis of the MEN1 gene in Be

Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases

✍ Jacques Poncin; Roger Abs; Brigitte Velkeniers; Maryse Bonduelle; Marc Abramowic 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 378 KB 👁 2 views

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in parathyroids, enteropancreatic endocrine tissues, anterior pituitary, and other tissues. The gene for MEN1 has recently been cloned and shown to code for a 610-amino acid protein of enigmatic func

Detection of five novel mutations of the

Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C)

✍ Geraldine Malone; Andrea Haworth; Martin J. Schwarz; Harry Cuppens; Maurice Supe 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 198 KB 👁 1 views

We analysed DNA samples from 26 Pakistani patients with cystic fibrosis (CF) living in the United Kingdom (14 from patients residing in the north west of England, who were referred directly to the North West Regional Molecular Genetics Laboratory, and 12 from other regional molecular genetics labora

Mutational analysis of the cystathionine

Mutational analysis of the cystathionine β-synthase gene: A splicing mutation, two missense mutations and an insertion in patients with homocystinuria

✍ Ross B. Gordon; Anthony J. Cox; Paul A. Dawson; Bryan T. Emmerson; Jan P. Kraus; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 132 KB

RT-PCR and direct sequence analyses were used to define mutations in the cystathionine b -synthase (CBS) gene in two unrelated male patients with vitamin B6 nonresponsive homocystinuria. Both patients were compound heterozygotes for CBS alleles containing point mutations. One patient had a maternall