Truncation of CGI-58 Protein Causes Malformation of Lamellar Granules Resulting in Ichthyosis in Dorfman-Chanarin Syndrome

Journal of Investigative Dermatology

Volumn 121, Issue 5, 2003, Pages 1029-1034

  Akiyama, Masashi ^a   Sawamura, Daisuke ^a   Nomura, Yuko ^b   Sugawara, Makoto ^b   Shimizu, Hiroshi ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Keiyu Hospital   (Japan)

Author keywords

Esterase; Ichthyosis; Lamellar body; Lipase; Neutral lipid storage disease

Indexed keywords

ESTERASE; HYDROLASE; LIPID BINDING PROTEIN; POLYPEPTIDE; THIOL ESTER HYDROLASE; TRIACYLGLYCEROL LIPASE;

ADOLESCENT; ARTICLE; CATALYSIS; CELL VACUOLE; CONTROLLED STUDY; DORFMAN CHANARIN SYNDROME; ELECTRON MICROSCOPY; ENZYME ACTIVITY; EXON; GENE MUTATION; HOMOZYGOSITY; HUMAN; ICHTHYOSIS; LIPID METABOLISM; LIPIDOSIS; LIVER DYSFUNCTION; MALE; MENTAL DEFICIENCY; MICROTIA; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHYSIOLOGY; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN FOLDING; SEQUENCE ANALYSIS;

EID: 0242490136     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2003.12520.x     Document Type: Article

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