Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren–Larsson syndrome-Reference-Cited by-同舟云学术

Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren–Larsson syndrome

Published:2007-09-28 Issue:10 Volume:52 Page:865-870
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Didona Biagio,Codispoti Andrea,Bertini Enrico,Rizzo Wiliam B.,Carney Gael,Zambruno Giovanna,Dionisi-Vici Carlo,Paradisi Mauro,Pedicelli Cristina,Melino Gerry,Terrinoni Alessandro

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg2007116.pdf

Reference28 articles.

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2. Chang C, Yoshida A (1997) Human fatty aldehyde dehydrogenase gene (ALDH10): organization and tissue-dependent expression. Genomics 40:80–85

3. De Laurenzi V, Rogers GR, Hamrock DJ, Marekov LN, Steinert PM, Compton JG, Markova N, Rizzo WB (1996) Sjogren–Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nat Genet 12:52–57

4. Hempel J, Kuo I, Perozich J, Wang BC, Lindahl R, Nicholas H (2001a) Aldehyde dehydrogenase. Maintaining critical active site geometry at motif 8 in the class 3 enzyme. Eur J Biochem 268:722–726

5. Hempel J, Lindahl R, Perozich J, Wang B, Kuo I, Nicholas H (2001b) Beyond the catalytic core of ALDH: a web of important residues begins to emerge. Chem Biol Interact 130–132:39–46

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