Mucolipidosis IV: Novel mutation and diverse ultrastructural spectrum in the skin

Neuropediatrics

Volumn 33, Issue 4, 2002, Pages 199-202

  Bargal, R ^a   Goebel, Hans H ^a   Latta, E ^a   Bach, G ^a  

^a UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

Author keywords

MCOLN1 Mutation; Mucolipidosis IV; Protracted Form; Skin; Ultrastructure

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELL VACUOLE; CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; ETHNOLOGY; EXON; FINGER DERMATOGLYPHICS; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC CODE; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; JEW; LAMELLAR BODY; LYMPHOCYTE; LYSOSOME; LYSOSOME STORAGE DISEASE; MALE; MUCOLIPIDOSIS; MUCOLIPIDOSIS TYPE 4; MUTATIONAL ANALYSIS; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SKIN BIOPSY;

ADULT; HUMANS; MALE; MEMBRANE PROTEINS; MUCOLIPIDOSES; MUTATION; SKIN; TRPM CATION CHANNELS;

EID: 0036695865     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2002-34496     Document Type: Article

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