✦ LIBER ✦

XV-2c/KM-19 haplotype analysis of cystic fibrosis mutations in Mexican patients

✍ Scribed by Orozco, Lorena ;Gonz�lez, Lizbeth ;Ch�vez, Margarita ;Vel�zquez, Rafael ;Lezana, Jos� Luis ;Salda�a, Yolanda ;Villarreal, Teresa ;Carnevale, Alessandra

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 95 KB
Volume: 102
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1465

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Analysis of 16 cystic fibrosis mutations

Analysis of 16 cystic fibrosis mutations in Mexican patients

✍ Villalobos-Torres, C.; Rojas-Martínez, A.; Villareal-Castellanos, E.; Cantú, J. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 142 KB 👁 2 views

We carried out molecular analysis of 80 chromosomes from 40 unrelated Mexican patients with a diagnosis of cystic fibrosis. The study was performed in two PCR steps: a preliminary one to identify mutation ⌬F508, the most frequent cause of cystic fibrosis worldwide, and the second a reverse dot-blot

Missense mutation R1066C in the second t

Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: Study of 19 heterozygous and 2 homozygous patients

✍ T Casals; P Pacheco; C Barreto; J Giménez; MD Ramos; S Pereira; JA Pinheiro; N C 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 157 KB 👁 1 views

We report the clinical features of 21 unrelated cystic fibrosis (CF) patients from Portugal and Spain, who carry the mutation R1066C in the CFTR gene. The current age of the patients was higher in the R1066C/any mutation group (P < 0.01), as compared to the aF508/aF508 group. Poor values for lung ra

Sweat chloride concentration in cystic f

Sweat chloride concentration in cystic fibrosis patients varies with KM.19 genotype but not with the presence of the common F508 deletion

✍ Gasparini, Paolo ;Pignatti, Pier Franco ;Borgo, Graziella ;Mastella, Gianni 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 147 KB

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

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

Analysis of 22 cystic fibrosis mutations

Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT

✍ Ludwine Messiaen; Conny Van Loon; Rudi Rossau; Ilse De Canck; Frans De Baets; Ed 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 126 KB 👁 1 views