To date, a large number of mutations causing the disease, cystic fibrosis, have been reported worldwide. ## Having analysed the coding sequence of a sample of cystic fibrosis (CF) patients from Russia, we have identified three novel CF mutations. Two of them, 175 del C in exon 1 and 624 del T in
Identification of three novel mutations in the CFTR gene, R117P, ΔD192, and 3121-1G→A in four French patients
✍ Scribed by Dr. Delphine Feldmann; Anne Sardet; Emmanuel Cougoureux; Elisabeth Plouvier; Jean-Loup Fontaine; Guy Tournier; Pierre Aymard
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 226 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
A deletion of at least 11.5 cM in the paternal X chromosome mapping between microsatellites DXS989 and DXS1003 and encompassing the genes for ornithine transcarbamylase (OTC), retinitis pigmentosa GTPase regulator (RPGR) and dystrophin, was associated with the loss of band Xp21 in a female patient w
Autosomal dominant myotonia congenita or Thomsen's disease (OMIM\* 160800) and autosomal recessive myotonia congenita or Becker's (OMIM\* 255700) are rare nondystrophic disorders due to allelic mutations of the muscle chloride channel gene, CLCN1. We have analysed all 24 exons of the CLCN1 gene, in