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

@article{c456ffe3badd4d0f9705896a2f77a8eb,

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",

year = "2007",

month = jan,

day = "1",

language = "English (US)",

volume = "122",

journal = "Human genetics",

issn = "0340-6717",

publisher = "Springer Verlag",

number = "3-4",

}

TY - JOUR

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

PY - 2007/1/1

Y1 - 2007/1/1

UR - http://www.scopus.com/inward/record.url?scp=41449085043&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=41449085043&partnerID=8YFLogxK

M3 - Article

C2 - 17717708

AN - SCOPUS:41449085043

VL - 122

JO - Human genetics

JF - Human genetics

SN - 0340-6717

IS - 3-4

ER -

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

ASJC Scopus subject areas

Other files and links

Cite this