Literature DB >> 12205125

Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease.

T R Olsen1, L Tranebjaerg, E A Kvittingen, L Hagenfeldt, C Møller, O Nilssen.   

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Year:  2002        PMID： 12205125      PMCID： PMC1735245          DOI： 10.1136/jmg.39.9.e55

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  4 in total

1.  Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent.

Authors:  Sunita Bijarnia; Sudha Kohli; Ratna Dua Puri; Rintu J Jacob; Renu Saxena; Anil Jalan; Eric A Sistermans; Saqib Mahmood; Ishwar Chander Verma
Journal:  Indian J Pediatr       Date:  2012-08-10       Impact factor: 1.967

2.  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

3.  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

4.  Analysis on the desert adaptability of indigenous sheep in the southern edge of Taklimakan Desert.

Authors:  Cheng-Long Zhang; Chunjie Liu; Jihu Zhang; Langman Zheng; Qianqian Chang; Zilong Cui; Shudong Liu
Journal:  Sci Rep       Date:  2022-07-18       Impact factor: 4.996
  4 in total

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