Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive.

Fernando Morales; Patricia Cuenca; Gerardo del Valle; Melissa Vásquez; Roberto Brian; Mauricio Sittenfeld; Keith Johnson; X. Lin; Tetsuo Ashizawa

Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive.

Fernando Morales, Patricia Cuenca, Gerardo del Valle, Melissa Vásquez, Roberto Brian, Mauricio Sittenfeld, Keith Johnson, X. Lin, Tetsuo Ashizawa

Research output: Contribution to journal › Article › peer-review

Original language	English (US)
Number of pages	1
Journal	Human genetics
Volume	122
Issue number	3-4
State	Published - Jan 1 2007

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Cite this

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title = "Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive.",

author = "Fernando Morales and Patricia Cuenca and {del Valle}, Gerardo and Melissa V{\'a}squez and Roberto Brian and Mauricio Sittenfeld and Keith Johnson and X. Lin and Tetsuo Ashizawa",

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T1 - Novel human pathological mutations. Gene symbol

T2 - CLCN1. Disease: myotonia congenita, autosomal recessive.

AU - Morales, Fernando

AU - Cuenca, Patricia

AU - del Valle, Gerardo

AU - Vásquez, Melissa

AU - Brian, Roberto

AU - Sittenfeld, Mauricio

AU - Johnson, Keith

AU - Lin, X.

AU - Ashizawa, Tetsuo

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SN - 0340-6717

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JO - Human genetics

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Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive.

ASJC Scopus subject areas

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