𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Exon 17 skipping in CLCN1 leads to recessive myotonia congenita

✍ Scribed by Lie Chen; Martin Schaerer; Zen H. Lu; Doris Lang; Franziska Joncourt; Joachim Weis; Juerg Fritschi; Lilianne Kappeler; Sabina Gallati; Erwin Sigel; Jean-Marc Burgunder


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
161 KB
Volume
29
Category
Article
ISSN
0148-639X

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Identification of five new mutations and
✍ F Sangiuolo; A Botta; A Mesoraca; S Servidei; L Merlini; G Fratta; G Novelli; B πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 143 KB πŸ‘ 2 views

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

Identification of a new heterozygous poi
✍ Sergej Feshchenko; JΓΌrgen Brinckmann; Hartwig W. Lehmann; Hans-Georg Koch; Peter πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 52 KB πŸ‘ 2 views

A heterozygous deletion of exon 9 in the COL1A2 -mRNA of a patient with symptoms of both the Ehlers -Danlos -Syndrome and the Osteogenesis Imperfecta is described. In the genomic DNA of the patient, exon 9 is homozygously present. We identified a novel heterozygous point mutation in the splice donor