Literature DB >> 7599639

Novel (cys152 > arg) missense mutation in an Arab patient with Canavan disease.

R Kaul1, G P Gao, K Michals, D T Whelan, S Levin, R Matalon.   

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Year:  1995        PMID： 7599639     DOI： 10.1002/humu.1380050313

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


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  7 in total

1.  The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.

Authors:  O N Elpeleg; A Shaag
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

Review 2.  Biochemistry and molecular biology of Canavan disease.

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

3.  Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.

Authors:  R Kaul; G P Gao; R Matalon; M Aloya; Q Su; M Jin; A B Johnson; R B Schutgens; J T Clarke
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

4.  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

5.  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

6.  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

7.  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
  7 in total

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