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Literature DB >> 16536828

Sjögren-Larsson syndrome in Brazil is caused by a common c.1108-1G-->C splice-site mutation in the ALDH3A2 gene.

M P Auada¹, M B Puzzi, M L Cintra, C E Steiner, F Alexandrino, E L Sartorato, T S Aguiar, R D Azulay, G Carney, W B Rizzo.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2006 PMID： 16536828 PMCID： PMC3055656 DOI： 10.1111/j.1365-2133.2006.07135.x

Source DB: PubMed Journal: Br J Dermatol ISSN： 0007-0963 Impact factor: 9.302

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7 in total

1. Human liver fatty aldehyde dehydrogenase: microsomal localization, purification, and biochemical characterization.

Authors: T L Kelson; J R Secor McVoy; W B Rizzo
Journal: Biochim Biophys Acta Date: 1997-04-17

2. The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.

Authors: W B Rizzo; G Carney; Z Lin
Journal: Am J Hum Genet Date: 1999-12 Impact factor: 11.025

Review 3. Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).

Authors: William B Rizzo; Gael Carney
Journal: Hum Mutat Date: 2005-07 Impact factor: 4.878

4. Sjögren-Larsson syndrome: biochemical defects and follow up in three cases.

Authors: Mariam Patrícia Auada; Maria Beatriz Puzzi Taube; Edgard F Collares; Ana Maria Uthida Tanaka; Maria Letícia Cintra
Journal: Eur J Dermatol Date: 2002 May-Jun Impact factor: 3.328

5. Sjögren-Larsson syndrome: seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2.

Authors: Gael Carney; Shu Wei; William B Rizzo
Journal: Hum Mutat Date: 2004-08 Impact factor: 4.878

6. Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene.

Authors: V De Laurenzi; G R Rogers; D J Hamrock; L N Marekov; P M Steinert; J G Compton; N Markova; W B Rizzo
Journal: Nat Genet Date: 1996-01 Impact factor: 38.330

7. Sjögren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients.

Authors: V De Laurenzi; G R Rogers; E Tarcsa; G Carney; L Marekov; S J Bale; J G Compton; N Markova; P M Steinert; W B Rizzo
Journal: J Invest Dermatol Date: 1997-07 Impact factor: 8.551

7 in total

5 in total

Review 1. Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.

Authors: William B Rizzo
Journal: Mol Genet Metab Date: 2006-09-22 Impact factor: 4.797

2. Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.

Authors: Mohamed S Abdel-Hamid; Mahmoud Y Issa; Hasnaa M Elbendary; Sherif F Abdel-Ghafar; Karima Rafaat; Heba Hosny; Marian Girgis; Ghada M H Abdel-Salam; Maha S Zaki
Journal: J Hum Genet Date: 2019-07-05 Impact factor: 3.172