A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation

Human Molecular Genetics

Volumn 8, Issue 12, 1999, Pages 2191-2198

  Sjöberg, Gunnar ^a   Saavedra Matiz, Carlos A ^b   Rosen, Daniel R ^b   Wijsman, Ellen M ^c   Borg, Kristian ^a   Horowitz, Steven H ^d   Sejersen, Thomas ^a  

^a Dept of Cell and Molecular Biology ^*  (Sweden)

^b WADSWORTH CENTER   (United States)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF MISSOURI   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DESMIN;

ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; DIMERIZATION; GENETIC CONSERVATION; GENETIC TRANSFECTION; HELA CELL; HUMAN; HUMAN CELL; HUMAN TISSUE; INTERMEDIATE FILAMENT; JEW; MISSENSE MUTATION; MYOPATHY; NONHUMAN; POLYMERIZATION; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; BASE SEQUENCE; BIOPSY; DESMIN; DNA PRIMERS; FEMALE; GENES, DOMINANT; HELA CELLS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION, MISSENSE; PEDIGREE;

ANIMALIA;

EID: 3042778127     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.12.2191     Document Type: Article

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