Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients

Human Molecular Genetics

Volumn 7, Issue 2, 1998, Pages 265-272

  Jalanko, Anu ^a   Tenhunen, Kai ^a   McKinney, Cindy E ^b   LaMarca, Mary E ^b   Rapola, Juhani ^c   Autti, Taina ^c   Joensuu, Raimo ^c   Manninen, Tuula ^a   Sipilä, Ilkka ^c   Ikonen, Sami ^d   Riekkinen Jr , Paavo ^d   Ginns, Edward I ^b   Peltonen, Leena ^a  

^a NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^c UNIVERSITY OF HELSINKI   (Finland)

^d UNIVERSITY OF EASTERN FINLAND   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

HYDROLASE; LYSOSOME ENZYME; N4 (BETA N ACETYLGLUCOSAMINYL)ASPARAGINASE;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; ASPARTYLGLYCOSAMINURIA; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN ATROPHY; ELECTRON MICROSCOPY; GENE MUTATION; GRAY MATTER; KIDNEY; LIVER; LYSOSOME STORAGE DISEASE; MAZE TEST; MENTAL DEFICIENCY; MOUSE; NONHUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SKIN; URINE LEVEL;

ACETYLGLUCOSAMINE; ANIMALS; ASPARTYLGLUCOSYLAMINASE; BRAIN; DISEASE MODELS, ANIMAL; DISEASE PROGRESSION; GENE TARGETING; GENES, RECESSIVE; HUMANS; LIVER; LYSOSOMAL STORAGE DISEASES; MAGNETIC RESONANCE IMAGING; MAZE LEARNING; MENTAL RETARDATION; MICE; MICE, KNOCKOUT; MICROSCOPY, ELECTRON; PHENOTYPE;

ANIMALIA;

EID: 6844252256     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.2.265     Document Type: Article

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