Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita (Q28115838)

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15 February 2020

title

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita (English)

2 references

4 January 2017

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Chloride voltage-gated channel 1

15 February 2020

main subject

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chloride transmembrane transport

GOA release 2020-03-11

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GOA release 2020-03-11

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1

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15 February 2020

Giulia Maria Camerino

4

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15 February 2020

Paola Imbrici

5

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15 February 2020

Carmelo Rodolico

7

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15 February 2020

Jean-François Desaphy

10

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15 February 2020

author name string

Concetta Altamura

2

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15 February 2020

Norma Licata

3

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15 February 2020

Olimpia Musumeci

6

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15 February 2020

Diana Conte Camerino

8

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15 February 2020

Antonio Toscano

9

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15 February 2020

publication date

26 May 2015

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15 February 2020

published in

NeuroMolecular Medicine

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volume

17

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page(s)

285-296

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issue

3

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Creative Commons Attribution 4.0 International

15 February 2020

copyright license

start time

26 May 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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exact match

https://scigraph.springernature.com/pub.10.1007/s12017-015-8356-8

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cites work

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A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1

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12 December 2020

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10.1007/S12017-015-8356-8

Identifiers

DOI

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Dimensions Publication ID

15 February 2020

1017913824

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15 February 2020

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