Literature DB >> 9452117

Missense mutation (I143T) in a Japanese patient with Canavan disease.

K Kobayashi1, S Tsujino, T Ezoe, H Hamaguchi, K Nihei, N Sakuragawa.   

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Year:  1998        PMID： 9452117     DOI： 10.1002/humu.1380110196

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  5 in total

Review 1.  Biochemistry and molecular biology of Canavan disease.

Authors:  R Matalon; K Michals-Matalon
Journal:  Neurochem Res       Date:  1999-04       Impact factor: 3.996

2.  Relationship between enzyme properties and disease progression in Canavan disease.

Authors:  Stephen Zano; Yasanandana S Wijayasinghe; Radhika Malik; Joshua Smith; Ronald E Viola
Journal:  J Inherit Metab Dis       Date:  2012-08-01       Impact factor: 4.982

3.  Structure of aspartoacylase, the brain enzyme impaired in Canavan disease.

Authors:  Eduard Bitto; Craig A Bingman; Gary E Wesenberg; Jason G McCoy; George N Phillips
Journal:  Proc Natl Acad Sci U S A       Date:  2006-12-28       Impact factor: 11.205

4.  Mutational analysis of aspartoacylase: implications for Canavan disease.

Authors:  Jeremy R Hershfield; Nagarajan Pattabiraman; Chikkathur N Madhavarao; M A Aryan Namboodiri
Journal:  Brain Res       Date:  2007-03-03       Impact factor: 3.252

5.  Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Authors:  B J Zeng; Z H Wang; L A Ribeiro; P Leone; R De Gasperi; S J Kim; S Raghavan; E Ong; G M Pastores; E H Kolodny
Journal:  J Inherit Metab Dis       Date:  2002-11       Impact factor: 4.982
  5 in total

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