๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Generation and characterization of mice with null mutation of the chloride intracellular channel 1 gene

โœ Scribed by Min Ru Qiu; Lele Jiang; Klaus I. Matthaei; Simone M. Schoenwaelder; Tamara Kuffner; Pierre Mangin; Joanne E. Joseph; Joyce Low; David Connor; Stella M. Valenzuela; Paul M.G. Curmi; Louise J. Brown; Martyn Mahaut-Smith; Shaun P. Jackson; Samuel N. Breit


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
470 KB
Volume
48
Category
Article
ISSN
1526-954X

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Characterization of three myotonia-assoc
โœ Bronwyn J. Simpson; Tamara A. Height; Grigori Y. Rychkov; Kristen J. Nowak; Nige ๐Ÿ“‚ Article ๐Ÿ“… 2004 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 190 KB

Two novel mutations of the human CLCN1 chloride channel gene, c.592C>G (p.L198V) and c.2255A>G (p.K752R), are described, occurring coincidentally in the one myotonic patient. These individual mutations and a construct with both mutations in the one cDNA were transcribed and expressed in Xenopus oocy

Identification of five new mutations and
โœ F Sangiuolo; A Botta; A Mesoraca; S Servidei; L Merlini; G Fratta; G Novelli; B ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 143 KB ๐Ÿ‘ 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

Characterization of the somatic mutation
โœ Meena Upadhyaya; Song Han; Claudia Consoli; Elisa Majounie; Martin Horan; Nick S ๐Ÿ“‚ Article ๐Ÿ“… 2004 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 307 KB ๐Ÿ‘ 1 views

## Communicated by Haig H. Kazazian One of the main features of neurofibromatosis type 1 (NF1) is benign neurofibromas, 10-20% of which become transformed into malignant peripheral nerve sheath tumors (MPNSTs). The molecular basis of NF1 tumorigenesis is, however, still unclear. Ninety-one tumors

Biochemical and molecular characterizati
โœ Barbara Plecko; Karl Paul; Eduard Paschke; Sylvia Stoeckler-Ipsiroglu; Eduard St ๐Ÿ“‚ Article ๐Ÿ“… 2006 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 299 KB

## Communicated by Arnold Munnich Patients with pyridoxine dependent epilepsy (PDE) present with early-onset seizures resistant to common anticonvulsants. According to the benefit of pyridoxine (vitamin B 6 ) and recurrence of seizures on pyridoxine withdrawal, patients so far have been classified