Mucopolysaccharidosis IVA (Morquio A): Three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase gene

Human Mutation

Volumn 8, Issue 2, 1996, Pages 187-190

  Fukuda, Seiji ^a   Tomatsu, Shunji ^a   Cooper, Alan ^b   Wraith, J E ^b   Kato, Zenichiro ^a   Yamada, Naoto ^a   Isogai, Koji ^a   Sukegawa, Kazuko ^a   Kondo, Naomi ^a   Orii, Tadao ^a  

^a GIFU UNIVERSITY   (Japan)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA; LYSOSOME ENZYME; N ACETYLGALACTOSAMINE 6 SULFATASE;

ARTICLE; CASE REPORT; ENZYME DEFECT; FRAMESHIFT MUTATION; GENE DELETION; GENOME; HUMAN; HUMAN CELL; INFANT; MALE; MORQUIO SYNDROME; MUCOPOLYSACCHARIDOSIS; ONSET AGE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SPINE MALFORMATION;

AMINO ACID SEQUENCE; CHONDROITINSULFATASES; GENE DELETION; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS IV; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 15844396990     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:2<187::AID-HUMU14>3.0.CO;2-Z     Document Type: Article

References (5)

1. Baker E, Guo X-H, Orsborn AM, Sutherland GR, Callen DF, Hopwood JJ, Morris P (1993) The Morquio A syndrome (Mucopolysaccharidosis IVA) gene maps to 16q24.3. Am J Hum Genet 52:96-97.
2. Beck M, Glössl J, Grubisic A, Spranger J (1986) Heterogeneity of Morquio disease. Clin Genet 29:325-331.
3. Fukuda S, Tomatsu S, Masue M, Sukegawa K, Iwata H, Ogawa T, Nakashima Y, Hori T, Yamagishi A, Hanyu Y, Murooka K, Kiman T, Hashimoto T, Orii T (1992) Mucopolysaccharidosis IVA N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases. J Clin Invest 90:1049-1053.
4. Glössl J, Maroteaux P, Di Natale P, Kresse H (1981) Different properties of residual N-acetylgalactosamine-6-sulfate sulfatase in fibroblasts from patients with mild and severe forms of Morquio disease type A. Pediatr Res 15:976-978.
5. Hechit JT, Scott CI, Smith TK, Williams JC (1984) Mild manifestations of the Morquio syndrome. Am J Med Genet 18:369-371.