SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases.

Annesi, G; Aguglia, U; Tarantino, P; Annesi, F; De Marco, E V; Civitelli, D; Torroni, A; Quattrone, A

Annesi, G; Aguglia, U; Tarantino, P; Annesi, F; De Marco, E V; Civitelli, D; Torroni, A; Quattrone, A.

Clin Genet ; 71(3): 288-9, 2007 Mar.

Article in En | MEDLINE | ID: mdl-17309654

Subject(s)

Chylomicrons/metabolism; Guanine Nucleotide Exchange Factors/genetics; Hypobetalipoproteinemia, Familial, Apolipoprotein B/genetics; Monomeric GTP-Binding Proteins/genetics; Mutation; Spinocerebellar Degenerations/genetics; Base Sequence; Homozygote; Humans; Male; Molecular Sequence Data; Pedigree; Sequence Analysis, DNA; Vitamin E/blood

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Collection: 01-internacional Database: MEDLINE Main subject: Spinocerebellar Degenerations / Chylomicrons / Monomeric GTP-Binding Proteins / Guanine Nucleotide Exchange Factors / Hypobetalipoproteinemia, Familial, Apolipoprotein B / Mutation Limits: Humans / Male Language: En Journal: Clin Genet Year: 2007 Document type: Article

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