A Novel Point Mutation of the FALDH Gene in a Japanese Family with Sjögren–Larsson Syndrome
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference9 articles.
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2. Sjögren–Larsson syndrome is caused by a common mutation in northern European and Swedish Patients;De Laurenzi;J Invest Dermatol,1997
3. Depletion of alcohol (hexanol) dehydrogenase activity in the epidermis and jejunal mucosa in Sjögren– Larsson syndrome;Judge;J Invest Dermatol,1990
4. The first structure of an aldehyde dehydrogenase reveals novel interactions between NAD and the Rossmann fold;Liu;Nat Struct Biol,1997
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1. Compound heterozygous mutations in the ALDH3A2 gene cause Sjögren-Larsson syndrome: a case report;International Journal of Neuroscience;2020-01-29
2. Genotype and phenotype variability in Sjögren-Larsson syndrome;Human Mutation;2018-11-26
3. Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sj?gren-Larsson Syndrome;Annals of Laboratory Medicine;2018-01-28
4. Sporadic VACTERL Association in a Japanese Family with Sjögren-Larsson Syndrome;Acta Dermato Venereologica;2013
5. Altered lipid profiles in the stratum corneum of Sjögren-Larsson syndrome;Journal of Dermatological Science;2011-07
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