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

被引：0
|
作者：
Fukuda, S [1 ]
Tomatsu, S [1 ]
Cooper, A [1 ]
Wraith, JE [1 ]
Kato, Z [1 ]
Yamada, N [1 ]
Isogai, K [1 ]
Sukegawa, K [1 ]
Kondo, N [1 ]
Orii, T [1 ]
机构：
[1] UNIV MANCHESTER,ROYAL MANCHESTER CHILDRENS HOSP,SCH MED,MANCHESTER M27 1HA,LANCS,ENGLAND
来源：
HUMAN MUTATION | 1996年 / 8卷 / 02期
关键词：
D O I：
10.1002/(SICI)1098-1004(1996)8:2<187::AID-HUMU14>3.0.CO;2-Z
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：187 / 190
页数：4
相关论文
共 50 条
  • [31] Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency
    Wang, L
    Ou, X
    Sebesta, I
    Vondrak, K
    Krijt, J
    Elleder, M
    Poupetova, H
    Ledvinova, J
    Zeman, J
    Simmonds, HA
    Tischfield, JA
    Sahota, A
    MOLECULAR GENETICS AND METABOLISM, 1999, 68 (01) : 78 - 85
  • [32] Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme
    Olarte-Avellaneda, Sergio
    Rodriguez, Alexander
    Almeciga, Carlos
    Barrera, Luis
    MOLECULAR GENETICS AND METABOLISM, 2013, 108 (02) : S70 - S71
  • [33] Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease
    Tomatsu, S
    Orii, KO
    Vogler, C
    Nakayama, J
    Levy, B
    Grubb, JH
    Gutierrez, MA
    Shim, S
    Yamaguchi, S
    Nishioka, T
    Montaño, AM
    Noguchi, A
    Orii, T
    Kondo, N
    Sly, WS
    HUMAN MOLECULAR GENETICS, 2003, 12 (24) : 3349 - 3358
  • [34] Severe phenotype of Morquio A disease in a child with S287L N-acetylgalactosamine-6-sulfate sulfatase mutation
    Gucev, Zoran S.
    Bouzidi, Hassan
    Tasic, Velibor
    Popjordanova, Nada
    Kirovski, Ilija
    Trajkovski, Zoran
    Jancevska, Aleksandra
    Bajrami, Sami
    GENE THERAPY AND MOLECULAR BIOLOGY, 2008, 12B : 383 - 386
  • [35] Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme: an update in genotype-phenotype correlation for Morquio A
    Olarte-Avellaneda, Sergio
    Rodriguez-Lopez, Alexander
    Javier Almeciga-Diaz, Carlos
    Alejandro Barrera, Luis
    MOLECULAR BIOLOGY REPORTS, 2014, 41 (11) : 7073 - 7088
  • [36] MUCOPOLYSACCHARIDOSIS-IV-A - ASSIGNMENT OF THE HUMAN N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE (GALNS) GENE TO CHROMOSOME-16Q24
    MASUNO, M
    TOMATSU, S
    NAKASHIMA, Y
    HORI, T
    FUKUDA, S
    MASUE, M
    SUKEGAWA, K
    ORII, T
    GENOMICS, 1993, 16 (03) : 777 - 778
  • [37] MUCOPOLYSACCHARIDOSIS TYPE IVA - COMMON DOUBLE DELETION IN THE N-ACETYLGALACTOSAMINE-6-SULFATASE GENE (GALNS)
    HORI, T
    TOMATSU, S
    NAKASHIMA, Y
    UCHIYAMA, A
    FUKUDA, S
    SUKEGAWA, K
    SHIMOZAWA, N
    SUZUKI, Y
    KONDO, N
    HORIUCHI, T
    OGURA, S
    ORII, T
    GENOMICS, 1995, 26 (03) : 535 - 542
  • [38] Recombinant N-acetylgalactosamine-6-sulfate sulfatase (GALNS) enzyme produced in pichia pastoris as an alternative for Morquio syndrome type A ERT
    Rodriguez-Lopez, Alexander
    Pimentel-Vera, Luisa N.
    Espejo-Mojica, Angela J.
    Hidalgo, Oscar A.
    Tomatsu, Shunji
    Almeciga-Diaz, Carlos J.
    MOLECULAR GENETICS AND METABOLISM, 2018, 123 (02) : S123 - S123
  • [39] LATE ONSET N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE DEFICIENCY IN 2 BROTHERS
    ORII, T
    SUKEGAWA, K
    TAGA, T
    JAPANESE JOURNAL OF HUMAN GENETICS, 1982, 27 (02): : 138 - 138
  • [40] BIOCHEMICAL HETEROGENEITY OF N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE OF NORMAL FIBROBLASTS AND OF FIBROBLASTS FROM PATIENTS WITH MORQUIO DISEASE TYPE-A
    GLOSSL, J
    KRESSE, H
    HOPPE-SEYLERS ZEITSCHRIFT FUR PHYSIOLOGISCHE CHEMIE, 1980, 361 (09): : 1286 - 1287
12345