RANK-dependent autosomal recessive osteopetrosis: Characterization of five new cases with novel mutations
β Scribed by Alessandra Pangrazio; Barbara Cassani; Matteo M Guerrini; Julie C Crockett; Veronica Marrella; Luca Zammataro; Dario Strina; Ansgar Schulz; Claire Schlack; Uwe Kornak; David J Mellis; Angela Duthie; Miep H Helfrich; Anne Durandy; Despina Moshous; Ashok Vellodi; Robert Chiesa; Paul Veys; Nadia Lo Iacono; Paolo Vezzoni; Alain Fischer; Anna Villa; Cristina Sobacchi
- Book ID
- 112118166
- Publisher
- American Society for Bone and Mineral Research
- Year
- 2012
- Tongue
- English
- Weight
- 575 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0884-0431
- DOI
- 10.1002/jbmr.559
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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