A patient with the Simpson-Golabi-Behmel syndrome displays a loss-of-function point mutation in GPC3 that inhibits the attachment of this proteoglycan to the cell surface

American Journal of Medical Genetics, Part A

Volumn 149, Issue 3, 2009, Pages 552-554

  Shi, Wen ^a   Filmus, Jorge ^a  

^a SUNNYBROOK RESEARCH INSTITUTE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GLYPICAN 3; HEPARAN SULFATE; PROTEOGLYCAN; PROTEOHEPARAN SULFATE; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR GLI1;

AMINO ACID SUBSTITUTION; CARBOXY TERMINAL SEQUENCE; CELL STRAIN HEK293; CELL SURFACE; COVALENT BOND; EMBRYO; ENDOCYTOSIS; GENE DELETION; GENE FUNCTION; GENE LOSS; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; HYDROPHOBICITY; LETTER; MUTATIONAL ANALYSIS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN FAMILY; SIMPSON GOLABI BEHMEL SYNDROME; X CHROMOSOME LINKED DISORDER;

ANIMALS; BETA-GALACTOSIDASE; CELL LINE; CELL MEMBRANE; CULTURE MEDIA, CONDITIONED; FLUORESCEIN-5-ISOTHIOCYANATE; FLUORESCENT ANTIBODY TECHNIQUE, DIRECT; FLUORESCENT DYES; GENES, REPORTER; GENETIC VECTORS; GLYPICANS; HEDGEHOG PROTEINS; HUMANS; KIDNEY; LUCIFERASES; MALE; MICE; NIH 3T3 CELLS; POINT MUTATION; PROTEOGLYCANS; SIGNAL TRANSDUCTION; SYNDROME; TIME FACTORS; TRANSFECTION;

EID: 61749084967     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32669     Document Type: Letter

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