Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.

Human mutation

Volumn 11, Issue 4, 1998, Pages 331-

  Sangiuolo, F ^a   Botta, A ^a   Mesoraca, A ^a   Servidei, S ^a   Merlini, L ^a   Fratta, G ^a   Novelli, G ^a   Dallapiccola, B ^a  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE CHANNEL; CLC 1 CHANNEL; CLC-1 CHANNEL; MUSCLE PROTEIN;

ARTICLE; DOMINANT GENE; GENETIC POLYMORPHISM; GENETICS; HUMAN; ITALY; MUTATION; RECESSIVE GENE; THOMSEN DISEASE;

CHLORIDE CHANNELS; GENES, DOMINANT; GENES, RECESSIVE; HUMANS; ITALY; MUSCLE PROTEINS; MUTATION; MYOTONIA CONGENITA; POLYMORPHISM, GENETIC;

EID: 0032242278     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1998)11:4<331::aid-humu13>3.0.co;2-0     Document Type: Article

References (0)