Sjögren–Larsson syndrome: Novel mutations in the ALDH3A2 gene in a French cohort-Reference-Cited by-同舟云学术

Sjögren–Larsson syndrome: Novel mutations in the ALDH3A2 gene in a French cohort

Published:2012-01 Issue:1-2 Volume:312 Page:123-126
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Sarret Catherine,Rigal Mélanie,Vaurs-Barrière Catherine,Dorboz Imen,Eymard-Pierre Eléonore,Combes Patricia,Giraud Geneviève,Wanders Ronald J.A.,Afenjar Alexandra,Francannet Christine,Boespflug-Tanguy Odile

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference11 articles.

1. Sjögren–Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency;Rizzo;Mol Genet Metab,2007

2. Fatty aldehyde dehydrogenase: genomic structure, expression and mutation analysis in Sjögren–Larsson syndrome;Rizzo;Chem Biol Interact,2001

3. Novel ALDH3A2 heterozygous mutations in a Japanese family with Sjögren–Larsson;Sakai;J Invest Dermatol,2006

4. Altered lipid profiles in the stratum corneum of Sjögren–Larsson syndrome;Nakajima;J Dermatol Sci,2011

5. Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren–Larsson syndrome;Willemsen;Brain,2001

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1. Genetic assessment of ten Egyptian patients with Sjögren–Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation;Archives of Dermatological Research;2019-08-06

2. Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome;npj Genomic Medicine;2019-07-23

3. Genotype and phenotype variability in Sjögren-Larsson syndrome;Human Mutation;2018-11-26

4. Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran;European Journal of Medical Genetics;2018-03

5. Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome;Clinical Genetics;2017-09-17