Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes

Human Genetics

Volumn 132, Issue 8, 2013, Pages 923-934

  Blaeser, Anthony ^a   Keramaris, Elizabeth ^a   Chan, Yiumo M ^a   Sparks, Susan ^a   Cowley, Dale ^c   Xiao, Xiao ^b   Lu, Qi Long ^a  

^a CAROLINAS MEDICAL CENTER   (United States)

^b University of North Carolina   (United States)

^c UNIVERSITY OF NORTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA DYSTROGLYCAN; FUKUTIN RELATED PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BRAIN DISEASE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; EXPERIMENTAL THERAPY; EYE MALFORMATION; FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; GLYCOSYLATION; HETEROZYGOTE; LIMB GIRDLE MUSCULAR DYSTROPHY; MOUSE; MUSCLE DEVELOPMENT; MUSCLE EYE BRAIN DISEASE; MUSCULAR DYSTROPHY; MYOPATHY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; WALKER WARBURG SYNDROME;

MURINAE; MUS;

ANIMALS; BLOTTING, WESTERN; DISEASE MODELS, ANIMAL; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; GLYCOSYLATION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; IMMUNOENZYME TECHNIQUES; MALE; MICE; MICE, INBRED C57BL; MUSCULAR DYSTROPHIES; MUTATION; PHENOTYPE; PROTEINS; REAL-TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 84880922391     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-013-1302-7     Document Type: Article

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