Spectrum of mutations and sequence varia
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Anna Sillén; Ingrun Anton-Lamprecht; Cordula Braun-Quentin; Cornelia S. Kraus; B
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Article
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1998
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John Wiley and Sons
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English
⚖ 265 KB
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The gene encoding the human fatty aldehyde dehydrogenase (FALDH) is located on 17p11.2, causing Sjögren-Larsson syndrome (SLS) when mutated. SLS is an autosomal recessive disorder characterized by a combination of mental retardation, congenital ichthyosis, and spastic di-or tetraplegia. We report he