Myosin binding protein C1: A novel gene for autosomal dominant distal arthrogryposis type 1

Human Molecular Genetics

Volumn 19, Issue 7, 2010, Pages 1165-1173

  Gurnett, Christina A ^a   Desruisseau, David M ^a   McCall, Kevin ^a   Choi, Ryan ^a   Meyer, Zachary I ^a   Talerico, Michael ^a   Miller, Sara E ^a   Ju, Jeong Sun ^a   Pestronk, Alan ^a   Connolly, Anne M ^a   Druley, Todd E ^a   Weihl, Conrad C ^a   Dobbs, Mathew B ^a,b  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b SHRINERS HOSPITAL FOR CHILDREN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GREEN FLUORESCENT PROTEIN; MYOSIN BINDING PROTEIN C;

AMINO ACID SUBSTITUTION; ARTHROGRYPOSIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 12Q; DISTAL ARTHROGRYPOSIS TYPE 1; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC LINKAGE; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SLOW MUSCLE FIBER;

ARTHROGRYPOSIS; BASE SEQUENCE; CARRIER PROTEINS; FEMALE; GENES, DOMINANT; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE;

EID: 77952477254     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp587     Document Type: Article

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