✦ LIBER ✦

A novel mutation in exon 3 of the CFTR gene

✍ Scribed by H. Guillermit; M. Jéhanne; I. Quéré; M. P. Audrézet; B. Mercier; C. Férec

Publisher: Springer
Year: 1993
Tongue: English
Weight: 368 KB
Volume: 91
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00218262

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel missense mutation (Y89C) in exon

A novel missense mutation (Y89C) in exon 3 of the CFTR (ABCC7) gene in a young male

✍ Rita Padoan; Diana Costantini; Maria Chiara Russo; Antonella Ambrosioni; Sabrina 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 3 views

Novel frameshift mutation in exon 4 of C

Novel frameshift mutation in exon 4 of CFTR gene

✍ T. Ivaschenko; M. Bakay; V. Baranov 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 156 KB 👁 1 views

## Communicated by Michel Coossens Cystic fibrosis (CF) is a common recessive lethal genetic disorder caused by various mutations in the

A novel mutation (G1249R) in exon 20 of

A novel mutation (G1249R) in exon 20 of the CFTR gene

✍ Dirk-Jan W. Dijkstra; Hans Scheffer; Charles H. C. M. Buys 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 101 KB 👁 1 views

A novel mutation in the CFTR gene: I506T

A novel mutation in the CFTR gene: I506T in exon 10

✍ Marie Desgeorges; Marie-Catherine Romey; Christine Coubes; Jacques Demaille; Mir 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 70 KB 👁 1 views

A woman with a family history of cystic fibrosis (CF) requested DNA analysis at 4 months of pregnancy. Since her brother died at age of 10 in 1986, it was necessary to perform DGGE screening of CFTR exons on DNA from the 2 parents. An aberrant heteroduplex pattern was observed for exon 10 amplified

A novel missense mutation, S1159F, in ex

A novel missense mutation, S1159F, in exon 19 of the CFTR gene

✍ Hans Hermann Seydewitz; Marcus Mall; Joachim Kuehr 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 3 views

Novel missense mutation S108F in exon 4

Novel missense mutation S108F in exon 4 of the CFTR gene

✍ H. H. Seydewitz; H. Müller; I. Witt 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 103 KB 👁 1 views

During the course of screening the DNA of cystic fibrosis patients for the presence of unknown mutations using the single-strand conformational polymorphism (SSCP) technique (Orita et al., 1989) in a modified nonisotopic form on the Pharmacia Phast system as proposed by Dockhorn-Dworniczak et al. (1