Mucopolysaccharidosis iva: A novel splice acceptor site mutation in intron 4 of the N-acetylgalactosamine-6-sulfate sulfatase gene in an Afghanistan girl with classical Morquio disease

Japanese Journal of Human Genetics

Volumn 42, Issue 2, 1997, Pages 317-322

  Fukuda, Seiji ^a  

^a GIFU UNIVERSITY   (Japan)

Author keywords

Morquio disease; Mucopolysaccharidosis IVA; N acetylgalactosamine 6 sulfate sulfatase; Splice site mutation

Indexed keywords

N ACETYLGALACTOSAMINE 6 SULFATASE;

AFGHANISTAN; ARTICLE; CASE REPORT; CHILD; FEMALE; GENE MUTATION; HUMAN; MORQUIO SYNDROME; NUCLEIC ACID BASE SUBSTITUTION;

IVA;

EID: 0030819854     PISSN: 09168478     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02766953     Document Type: Article

References (24)

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