✦ LIBER ✦

Population-based study of cystic fibrosis disease severity and haemochromatosis gene mutations

✍ Scribed by Upasna PRATAP; Stephen QUINN; Leigh B. BLIZZARD; David W. REID

Book ID: 108965197
Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 155 KB
Volume: 15
Category: Article
ISSN: 1323-7799
DOI: 10.1111/j.1440-1843.2009.01649.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Heterogeneity in the severity of cystic

Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations

✍ Michael Dean; George Santis 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 589 KB

Cystic fibrosis is a common, fatal disorder caused by abnormalities in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CFTR encodes a chloride channel that regulates secretion in many exocrine tissues. The presentation of cystic fibrosis is highly variable as measured by the age

Neonatal screening for cystic fibrosis:

Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses

✍ C. Férec; C. Verlingue; P. Parent; J. F. Morin; J. P. Codet; G. Rault; M. Dagorn 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 700 KB

We have evaluated a two-tier neonatal cystic fibrosis (CF) screening of immunoreactive trypsinogen (IRT) followed by CFTR gene mutation analysis using a systematic scanning of exons 7, 10, and 11, and, if necessary, by direct DNA sequencing. Over an 18-month period we screened 32,300 neonates born i

Heritability of vasculopathy, autoimmune

Heritability of vasculopathy, autoimmune disease, and fibrosis in systemic sclerosis: A population-based study

✍ Tracy Frech; Dinesh Khanna; Boaz Markewitz; Geraldine Mineau; Richard Pimentel; 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 84 KB 👁 2 views

## Abstract ## Objective To investigate the familiality of systemic sclerosis (SSc) in relation to Raynaud's phenomenon (RP) (a marker of vasculopathy), other autoimmune inflammatory disease, and fibrotic interstitial lung disease (ILD). ## Methods A genealogic resource, the Utah Population Data

Population-based study of the relationsh

Population-based study of the relationship between mutations in the hemochromatosis (HFE) gene and arthritis

✍ Colin A Sherrington; Matthew W Knuiman; Mark L Divitini; Helen C Bartholomew; Di 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 71 KB

Frequency and clinical significance of t

Frequency and clinical significance of the S1235R mutation in the cystic fibrosis transmembrane conductance regulator gene: Results from a collaborative study

✍ Monaghan, K.G. ;Feldman, G.L. ;Barbarotto, G.M. ;Manji, S. ;Desai, T.K. ;Snow, K 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 82 KB 👁 1 views

Association of mannose-binding lectin ge

Association of mannose-binding lectin gene variation with disease severity and infections in a population-based cohort of systemic lupus erythematosus patients

✍ Garred, P; Voss, A; Madsen, H O; Junker, P 📂 Article 📅 2001 🏛 Nature Publishing Group 🌐 English ⚖ 148 KB