Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA)

American Journal of Medical Genetics

Volumn 63, Issue 4, 1996, Pages 558-565

  Cole, D E C ^a,d   Fukuda, S ^c   Gordon, B A ^b   Rip, J W ^b   LeCouteur, A N ^b   Rupar, C A ^b   Tomatsu, S ^c   Ogawa, T ^c   Sukegawa, K ^c   Orii, T ^c  

^a UNIVERSITY OF TORONTO   (Canada)

^b UNIVERSITY OF WESTERN ONTARIO   (Canada)

^c GIFU UNIVERSITY   (Japan)

^d UNIVERSITY OF TORONTO   (Canada)

Author keywords

galactosamine 6 sulfate sulfatase; keratan sulfate; Morquio syndrome; mucopolysaccharidosis; spondyloepiphyseal dysplasia

Indexed keywords

SULFATASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CORNEA OPACITY; FEMALE; GROWTH DISORDER; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; MORQUIO SYNDROME; MULTIPLE SULFATASE DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL; SPONDYLOEPIPHYSEAL DYSPLASIA; VISUAL IMPAIRMENT;

EID: 0030013161     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960628)63:4<558::AID-AJMG9>3.0.CO;2-K     Document Type: Article

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