𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes

✍ Scribed by Raffaella Brugnoni; Lorenzo Maggi; Eleonora Canioni; Isabella Moroni; Chiara Pantaleoni; Stefano D’Arrigo; Daria Riva; Ferdinando Cornelio; Pia Bernasconi; Renato Mantegazza


Publisher
Springer
Year
2010
Tongue
English
Weight
390 KB
Volume
257
Category
Article
ISSN
0340-5354

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Mutation screening of the fibrillin-1 (F
✍ Kathrin Rommel; Matthias Karck; Axel Haverich; Jörg Schmidtke; Mine Arslan-Kirch 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 38 KB

Mutations in the gene encoding fibrillin-1 (FBN1) cause Marfan syndrome (MFS) and other related connective tissue disorders. In this study we performed SSCP to analyze all 65 exons of the FBN1 gene in 76 patients presenting with classical MFS or related phenotypes. We report 7 missense mutations, 3

Identification of five new mutations and
✍ F Sangiuolo; A Botta; A Mesoraca; S Servidei; L Merlini; G Fratta; G Novelli; B 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 143 KB 👁 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