Literature DB >> 10399108

A novel exonic mutation in the aspartylglucosaminidase gene causes exon skipping.

M B Coulter-Mackie1.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1999        PMID： 10399108     DOI： 10.1023/a:1005563004678

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


× No keyword cloud information.
  3 in total

Review 1.  The regulation of splice-site selection, and its role in human disease.

Authors:  T A Cooper; W Mattox
Journal:  Am J Hum Genet       Date:  1997-08       Impact factor: 11.025

2.  Aspartylglucosaminuria in a Canadian family.

Authors:  B A Gordon; C A Rupar; J W Rip; M D Haust; M B Coulter-Mackie; E Scott; G G Hinton
Journal:  Clin Invest Med       Date:  1998-06       Impact factor: 0.825

3.  Three-dimensional structure of human lysosomal aspartylglucosaminidase.

Authors:  C Oinonen; R Tikkanen; J Rouvinen; L Peltonen
Journal:  Nat Struct Biol       Date:  1995-12
  3 in total
  2 in total

1.  Structural basis of a point mutation that causes the genetic disease aspartylglucosaminuria.

Authors:  Lufei Sui; Damodharan Lakshminarasimhan; Suchita Pande; Hwai-Chen Guo
Journal:  Structure       Date:  2014-11-13       Impact factor: 5.006

2.  Crystal structure of a mutant glycosylasparaginase shedding light on aspartylglycosaminuria-causing mechanism as well as on hydrolysis of non-chitobiose substrate.

Authors:  Suchita Pande; Damodharan Lakshminarasimhan; Hwai-Chen Guo
Journal:  Mol Genet Metab       Date:  2017-04-19       Impact factor: 4.797
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.