✦ LIBER ✦

A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis

✍ Scribed by Rita Padoan; Alessandra Bassotti; Manuela Seia; Antonella Ambrosioni; Sabrina Fiori; Silvia Prandoni; Angelo Cantù Rajnoldi; Annamaria Giunta; Carlo Corbetta

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 12 KB
Volume: 15
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(200005)15:5<485::aid-humu22>3.0.co;2-3

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✦ Synopsis

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A novel deletion in exon 12 (g1845delAG

A novel deletion in exon 12 (g1845delAG or g1846delGA) of the CFTR (ABCC7) gene in a CF infant presenting with meconium ileus

✍ Manuela Seia; Angelo Cantù-Rajnoldi; Antonella Ambrosioni; Sabrina Fiori; Silvia 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 1 views