Human α-N-acetylgalactosaminidase (α-NAGA) deficiency: New mutations and the paradox between genotype and phenotype

Journal of Medical Genetics

Volumn 33, Issue 6, 1996, Pages 458-464

  Keulemans, J L M ^a   Reuser, A J J ^a   Kroos, M A ^a   Willemsen, R ^a   Hermans, M M P ^a   Van Den Ouweland, A M W ^a   De Jong, J G N ^b   Wevers, R A ^b   Renier, W O ^b   Schindler, D ^c   Coll, M J ^d   Chabas, A ^d   Sakuraba, H ^e   Suzuki, Y ^e   Van Diggelen, O P ^a  

^a ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^b RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^c UNIVERSITY OF WÜRZBURG   (Germany)

^d Institute of Clinical Biochemistry   (Spain)

^e TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

Author keywords

N acetylgalactosaminidase; NAGA deficiency; Processing

Indexed keywords

ALPHA N ACETYLGALACTOSAMINIDASE; OLIGOSACCHARIDE; SIALOGLYCOPROTEIN;

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENOTYPE; HEMANGIOKERATOMA; HUMAN; HUMAN CELL; MALE; NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; STOP CODON; URINE LEVEL;

ALPHA-N-ACETYLGALACTOSAMINIDASE; ANIMALS; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; FEMALE; GENOTYPE; HEXOSAMINIDASES; HUMANS; INFANT; MALE; MUTATION; PEDIGREE; PHENOTYPE; RABBITS; SKIN;

EID: 19144372837     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

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