A minigene approach for analysis of ATP7B splice variants in patients with Wilson disease

Biochimie

Volumn 91, Issue 10, 2009, Pages 1342-1345

  Wilson, Anna M E ^a   Schlade Bartusiak, Kamilla ^a   Tison, Jean Luc ^a,b   Macintyre, Georgina ^a   Cox, Diane W ^a  

^a UNIVERSITY OF ALBERTA   (Canada)

^b UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

ATP7B; Minigene; Splicing; Variant analysis; Wilson disease

Indexed keywords

COPPER; RNA; WILSON DISEASE PROTEIN;

ACCURACY; ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN LEVEL; CELL LINE; CELL STRAIN COS7; CONTROLLED STUDY; DIAGNOSTIC VALUE; EXON; EXPRESSION VECTOR; FEMALE; GENE LOCATION; GENETIC ANALYSIS; GENETIC TRANSFECTION; GENETIC VARIABILITY; IN VIVO STUDY; LIVER LEVEL; MAMMAL; MOLECULAR CLONING; MUTATIONAL ANALYSIS; NONHUMAN; PATHOGENESIS; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA EXTRACTION; RNA SPLICING; WILD TYPE; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ANIMALS; CATION TRANSPORT PROTEINS; CERCOPITHECUS AETHIOPS; COMPUTATIONAL BIOLOGY; COS CELLS; DNA MUTATIONAL ANALYSIS; HEPATOLENTICULAR DEGENERATION; HUMANS; POLYMERASE CHAIN REACTION;

MAMMALIA;

EID: 69749090711     PISSN: 03009084     EISSN: 61831638     Source Type: Journal    
DOI: 10.1016/j.biochi.2009.06.008     Document Type: Article

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