In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay-Reference-Cited by-同舟云学术

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In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay

Published:2014-01-23 Issue:5 Volume:41 Page:2865-2874
ISSN:0301-4851
Container-title:Molecular Biology Reports
language:en
Short-container-title:Mol Biol Rep

Author:

Ulzi Gianna,Sansone Valeria A.,Magri Francesca,Corti Stefania,Bresolin Nereo,Comi Giacomo P.,Lucchiari Sabrina

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s11033-014-3142-5.pdf

Reference42 articles.

1. Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TJ (1992) The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 257:797–800

2. Pusch M (2002) Myotonia caused by mutations in the muscle chloride channel gene CLCN1. Hum Mutat 19:423–434

3. Duno M, Colding-Jørgensen E (2008) Myotonia congenita. Gene Rev 8:1–15

4. Trivedi JR, Bundy B, Statland J, Salajegheh M, Rayan DR, Venance SL, Wang Y, Fialho V, Matthews E, Cleland J, Gorham N, Herbelin L, Cannon S, Amato A, Griggs RC, Hanna MG, Barohn RJ, The CINCH Consortium (2013) Non-dystrophic myotonia: prospective study of objective and patient reported outcomes. Brain 136:2198–2200

5. Fialho D, Kullmann DM, Hanna MG, Schorge S (2008) Non-genomic effects of sex hormones on ClC-1 may contribute to gender differences in myotonia congenita. Neuromuscul Disord 18:869–872

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1. Translating genetic and functional data into clinical practice: a series of 223 families with myotonia;Brain;2021-09-16

2. A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient;BMC Neurology;2018-09-22

3. Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature;Channels;2016-08-11

4. Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2015-12

5. Identification and Functional Characterization ofCLCN1Mutations Found in Nondystrophic Myotonia Patients;Human Mutation;2015-10-28

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