Molecular analysis of acid ceramidase deficiency in patients with Farber disease

Human Mutation

Volumn 17, Issue 3, 2001, Pages 199-209

  Bär, Julia ^a   Linke, Thomas ^a   Ferlinz, Klaus ^b   Neumann, Ulrich ^c   Schuchman, Edward H ^d   Sandhoff, Konrad ^a  

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c UNIVERSITY OF VETERINARY MEDICINE HANNOVER   (Germany)

^d MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

AC; Acid ceramidase; ASAH; Exon skipping; Farber disease; Mutation analysis

Indexed keywords

ACYLSPHINGOSINE DEACYLASE; CERAMIDE; COMPLEMENTARY DNA; ENZYME PRECURSOR;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CELL STRAIN COS1; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; FARBER DISEASE; FEMALE; FIBROBLAST; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; INFANT; INTRON; MALE; NONHUMAN; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN SYNTHESIS;

AMIDOHYDROLASES; ANIMALS; CELLS, CULTURED; CHILD, PRESCHOOL; COS CELLS; DNA; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FATAL OUTCOME; FEMALE; FIBROBLASTS; HUMANS; INFANT; LYSOSOMAL STORAGE DISEASES; MALE; MUTATION; PRECIPITIN TESTS;

EID: 0035116014     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.5     Document Type: Article

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