Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin

Journal of Inherited Metabolic Disease

Volumn 19, Issue 1, 1996, Pages 76-83

  Park, H ^a   Rossiter, M ^b   Fensom, A H ^c   Winchester, B ^d   Aronson Jr , N N ^a  

^a UNIVERSITY OF SOUTH ALABAMA   (United States)

^b NORTH MIDDLESEX UNIVERSITY HOSPITAL   (United Kingdom)

^c GUY S HOSPITAL   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOPROTEIN; N4 (BETA N ACETYLGLUCOSAMINYL)ASPARAGINASE;

ADOLESCENT; ARTICLE; ASPARTYLGLYCOSAMINURIA; CASE REPORT; ENZYME DEFICIENCY; EXON; FRAMESHIFT MUTATION; GENE DELETION; HUMAN; LYSOSOME STORAGE DISEASE; MALE; PROTEIN DEGRADATION; SOUTH ASIA; STOP CODON;

ACETYLGLUCOSAMINE; ADOLESCENT; AMINO ACID SEQUENCE; ASPARTYLGLUCOSYLAMINASE; BASE SEQUENCE; BLOTTING, WESTERN; EXONS; HUMANS; LYSOSOMAL STORAGE DISEASES; MALE; MAURITANIA; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; PROTEIN PROCESSING, POST-TRANSLATIONAL;

EID: 0029962926     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799351     Document Type: Article

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