A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family-Reference-Cited by-同舟云学术

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A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family

Published:2012-01-05 Issue:5 Volume:39 Page:6197-6201
ISSN:0301-4851
Container-title:Molecular Biology Reports
language:en
Short-container-title:Mol Biol Rep

Author:

Hussain Rashida,Daud Shakeela,Kakar Naseebullah,Ahmad Adeel,Baloch Abdul Hameed,Tareen Abdul Malik,Kakar Muhammad Azam,Ahmad Jamil

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s11033-011-1438-2.pdf

Reference28 articles.

1. Matalon R, Michals K, Kaul R (1995) Canavan disease: from spongy degeneration to molecular analysis. J Pediatr 127:511–517

2. Matalon R, Michals K, Sebasta D, Deanching M, Gashkoff P, Casanova J (1988) Aspartoacylase deficiency in N-acetylaspartic aciduria in patients with Canavan disease. Am J Med Genet 29:463–471

3. Birnbaum SM (1955) Aminoacylases I and II from hog kidney. Methods Enzymol 2:115–119

4. Goldstein FB (1959) Biosynthesis of N-acetyl-l-aspartic acid. J Biol Chem 234:2702–2706

5. Goldstein FB (1969) The enzymatic synthesis of N-acetyl-l-aspartic acid by subcellular preparations of rat brain. J Biol Chem 244:4257–4260

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Novel Disease-Causing ASPA Gene Mutation (c.432+1 G>C) in an Iranian Patient with Canavan Disease: A Case Report;International Journal of Biomedicine;2021-12-10

2. Combined transcriptome and proteome analyses reveal differences in the longissimus dorsi muscle between Kazakh cattle and Xinjiang brown cattle;Animal Bioscience;2021-09-01

3. A case of juvenile Canavan disease with distinct pons involvement;Brain and Development;2020-02

4. Computational analysis of deleterious missense mutations in aspartoacylase that cause Canavan’s disease;Science China Life Sciences;2012-12

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