Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: Role of the C2a splice variant

Journal of Biological Chemistry

Volumn 285, Issue 13, 2010, Pages 10005-10015

  Zhang, Rui Zhu ^a   Zou, Yaqun ^b   Pan, Te Cheng ^a   Markova, Dessislava ^a   Fertala, Andrzej ^a   Hu, Ying ^b   Squarzoni, Stefano ^c   Reed, Umbertina Conti ^d   Marie, Suely K N ^d   Bönnemann, Carsten G ^b   Chu, Mon Li ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c CNR   (Italy)

^d UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ADHESION SITES; ELECTROSTATIC POTENTIALS; FRAMESHIFT; GENES ENCODING; MICRO-FIBRILS; MOLECULAR MECHANISM; MUSCULAR DYSTROPHY; SPLICE VARIANTS; SUBDOMAIN; TRANSFECTED CELLS; TRIPLE-HELICAL COLLAGEN;

CELL CULTURE; FIBROBLASTS; METAL IONS;

COLLAGEN;

COLLAGEN TYPE 6; COLLAGEN TYPE 6 A2 C; UNCLASSIFIED DRUG; COL6A2 PROTEIN, HUMAN; COLLAGEN; ION;

AMINO ACID SUBSTITUTION; ARTICLE; BINDING SITE; CASE REPORT; CONTROLLED STUDY; DISEASE SEVERITY; FIBER; FIBROBLAST; GENE IDENTIFICATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; MISSENSE MUTATION; MUSCULAR DYSTROPHY; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN SECRETION; RECESSIVE INHERITANCE; TRIPLE HELIX; ULLRICH CONGENITAL MUSCULAR DYSTROPHY; ADULT; ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; BIOPSY; CHEMISTRY; CHILD; FEMALE; GENETICS; HOMOZYGOTE; MALE; METABOLISM; MOLECULAR GENETICS; RECESSIVE GENE; SEQUENCE HOMOLOGY;

ADULT; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; BIOPSY; CHILD; COLLAGEN; COLLAGEN TYPE VI; FEMALE; FIBROBLASTS; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; IONS; MALE; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES; MUTATION, MISSENSE; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 77951211818     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M109.093666     Document Type: Article

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