MUCOPOLYSACCHARIDOSIS TYPE VI: IDENTIFICATION OF NOVEL MUTATIONS ON THE ARYLSULPHATASE B GENE IN SOUTH-AMERICAN PATIENTS

被引：0
|
作者：
Petry, M. [1 ,2 ]
Nonemacher, K. [1 ]
Sebben, J. [1 ]
Schwartz, I. V. [1 ,3 ]
Azevedo, A. C. [1 ]
Burin, M. [1 ]
Rezende, A.
Kim, C.
Giugliani, T. [1 ,2 ]
Leistner-Segal, S. [1 ]
机构：
[1] Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, Brazil
[2] Univ Fed Rio Grande do Sul, Dept Biochem, Porto Alegre, RS, Brazil
[3] Univ Fed Rio Grande do Sul, Dept Genet, Porto Alegre, RS, Brazil
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 2005年 / 28卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：191 / 191
页数：1
相关论文
共 50 条
  • [1] Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients
    Petry, MFG
    Nonemacher, K
    Sebben, JC
    Schwartz, IVD
    Azevedo, ACM
    Burin, MG
    de Rezende, AR
    Kim, CA
    Giugliani, R
    Leistner-Segal, S
    JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 (06) : 1027 - 1034
  • [2] Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI
    Uttarilli, Anusha
    Ranganath, Prajnya
    Jain, S. Jamal Md Nurul
    Prasad, Krishna C.
    Sinha, Anupam
    Verma, Ishwar C.
    Phadke, Shubha R.
    Puri, Ratna D.
    Danda, Sumita
    Muranjan, Mamta N.
    Jevalikar, Ganesh
    Nagarajaram, H. A.
    Dalal, Ashwin B.
    INDIAN JOURNAL OF MEDICAL RESEARCH, 2015, 142 : 414 - 425
  • [3] Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene (ARSB) in Moroccan patient
    Sabir, Es-Said
    Marzouki, Naima
    Lafhal, Karima
    Elqadiry, Rabiy
    Radaa, Nourrdin
    Bouskraoui, Mohammed
    Fdil, Naima
    MOLECULAR GENETICS AND METABOLISM, 2019, 126 (02) : S128 - S128
  • [4] Identification of mutations in the arylsulfatase B gene in Russian patients with type VI mucopolysaccharidosis
    Voskoboeva, EY
    Krasnopolskaya, XD
    Peters, K
    von Figura, K
    RUSSIAN JOURNAL OF GENETICS, 2000, 36 (06) : 689 - 694
  • [5] Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI
    Rokhsareh Jafaryazdi
    Sedigheh Shams
    Anna Isaian
    Aria Setoodeh
    Shahram Teimourian
    Molecular Biology Reports, 2019, 46 : 3417 - 3426
  • [6] Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI
    Jafaryazdi, Rokhsareh
    Shams, Sedigheh
    Isaian, Anna
    Setoodeh, Aria
    Teimourian, Shahram
    MOLECULAR BIOLOGY REPORTS, 2019, 46 (03) : 3417 - 3426
  • [7] Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients
    Malekpour, Nasrin
    Vakili, Rahim
    Hamzehloie, Tayebeh
    IRANIAN JOURNAL OF BASIC MEDICAL SCIENCES, 2018, 21 (09) : 950 - 956
  • [8] Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene
    Jolly, R. D.
    Hopwood, J. J.
    Marshall, N. R.
    Jenkins, K. S.
    Thompson, D. J.
    Dittmer, K. E.
    Thompson, J. C.
    Fedele, A. O.
    Raj, K.
    Giger, U.
    NEW ZEALAND VETERINARY JOURNAL, 2012, 60 (03) : 183 - 188
  • [9] Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI
    Aminzadeh, Majid
    Malekpour, Nasrin
    Ghandil, Pegah
    GENE, 2019, 706 : 1 - 5
  • [10] MUCOPOLYSACCHARIDOSIS TYPE II: A CLINICAL STUDY OF 77 SOUTH-AMERICAN PATIENTS
    Schwartz, I
    Ribeiro, M.
    Mota, J.
    Toralles, M.
    Correia, P.
    Horovitz, D.
    Santos, E.
    Monlleo, I
    Fett-Conte, A.
    Oliveira, S. R.
    Norato, D.
    Paula, A.
    Kim, C.
    Duarte, A.
    Boy, R.
    Valadares, E.
    De Michelena, M.
    Mabe, P.
    Martinhago, C.
    Pina-Neto, J.
    Kok, F.
    Leistner, S.
    Burin, M.
    Giugliani, R.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 : 188 - 188
12345