Recent advances in Dyggve-Melchior-Clausen syndrome

Molecular Genetics and Metabolism

Volumn 83, Issue 1-2, 2004, Pages 51-59

  Paupe, Vincent ^a   Gilbert, Thierry ^a   Le Merrer, Martine ^a   Munnich, Arnold ^a   Cormier Daire, Valérie ^a   El Ghouzzi, Vincent ^a  

^a INSERM   (France)

Author keywords

Dyggve Melchior Clausen syndrome; Dymeclin; Recessive autosomal; Spondylo epi metaphyseal dysplasia; Storage disorder

Indexed keywords

AMINO ACID;

AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CARTILAGE CELL; CELL MEMBRANE; CHROMOSOME 18Q; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DYGGVE MELCHIOR CLAUSEN SYNDROME; ELECTRON MICROSCOPY; ENDOPLASMIC RETICULUM; ENZYME DEFICIENCY; FIBROBLAST; GENE EXPRESSION; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENETIC TRANSCRIPTION; GUAM; HOMOZYGOSITY; HUMAN; LEBANON; LYSOSOME; MENTAL DEFICIENCY; MOROCCO; MORQUIO SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SHORT SURVEY; SMITH MAGENIS SYNDROME; SPONDYLOEPIPHYSEAL DYSPLASIA;

EID: 4744359222     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.08.012     Document Type: Review

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