Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.

Meili, David; Kralovicova, Jana; Zagalak, Julian; Bonafé, Luisa; Fiori, Laura; Blau, Nenad; Thöny, Beat; Vorechovsky, Igor

Meili, David; Kralovicova, Jana; Zagalak, Julian; Bonafé, Luisa; Fiori, Laura; Blau, Nenad; Thöny, Beat; Vorechovsky, Igor.

Affiliation

Meili D; Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zürich, Switzerland.

Hum Mutat ; 30(5): 823-31, 2009 May.

Article in En | MEDLINE | ID: mdl-19280650

Subject(s)

Alu Elements/genetics; DNA, Antisense/genetics; Disease/genetics; Exons/genetics; Long Interspersed Nucleotide Elements/genetics; Mutation/genetics; Poly T/genetics; Base Sequence; Cell Line; Female; Humans; Infant, Newborn; Introns/genetics; Male; Molecular Sequence Data; Nuclear Proteins/metabolism; Nucleic Acid Conformation; Phosphorus-Oxygen Lyases/genetics; Phosphorus-Oxygen Lyases/metabolism; RNA Splice Sites/genetics; RNA, Messenger/genetics; RNA, Messenger/metabolism; RNA-Binding Proteins/metabolism; Sequence Deletion/genetics; Serine-Arginine Splicing Factors

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Poly T / Exons / Disease / DNA, Antisense / Long Interspersed Nucleotide Elements / Alu Elements / Mutation Limits: Female / Humans / Male / Newborn Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2009 Type: Article Affiliation country: Switzerland

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