Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase: Identification of the first molecular lesion causing farber disease

Journal of Biological Chemistry

Volumn 271, Issue 51, 1996, Pages 33110-33115

  Koch, Jürgen ^a   Gärtner, Sabine ^a,c   Li, Chi Ming ^b   Quintern, Lothar E ^a,d   Bernardo, Katussevani ^a,e   Levran, Orna ^b,f   Schnabel, Doris ^a,g   Desnick, Robert J ^b   Schuchman, Edward H ^b   Sandhoff, Konrad ^a  

^a UNIVERSITY OF BONN   (Germany)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c Bundesministerium für Umwelt Naturschutz und Reaktorsicherheit   (Germany)

^d BioSense   (Germany)

^e UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^f ROCKEFELLER UNIVERSITY   (United States)

^g Medizinische Poliklinik Bonn   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLSPHINGOSINE DEACYLASE; COMPLEMENTARY DNA;

ARTICLE; FARBER DISEASE; HUMAN; HUMAN CELL; MOLECULAR CLONING; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; SIGNAL TRANSDUCTION;

AMIDOHYDROLASES; AMINO ACID SEQUENCE; BASE SEQUENCE; CLONING, MOLECULAR; DNA, COMPLEMENTARY; HUMANS; LYSOSOMAL STORAGE DISEASES; MOLECULAR SEQUENCE DATA; POINT MUTATION;

EID: 0030479325     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.271.51.33110     Document Type: Article

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