Exon duplications in the ATP7A gene: Frequency and Transcriptional Behaviour

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Mogensen, Mie ^a   Skjørringe, Tina ^a   Kodama, Hiroko ^b   Silver, Kenneth ^c   Horn, Nina ^a   Møller, Lisbeth B ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b Teikyo Heise University   (Japan)

^c UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MENKES PROTEIN; ADENOSINE TRIPHOSPHATASE; ATP7A PROTEIN, HUMAN; CATION TRANSPORT PROTEIN;

ARTICLE; CLINICAL ARTICLE; EXON; GENE DUPLICATION; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN TISSUE; MENKES SYNDROME; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; X CHROMOSOME; ADULT; CUTIS LAXA; EHLERS DANLOS SYNDROME; FEMALE; GENETIC PROCEDURES; GENETICS; MALE; METABOLISM; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; PATHOLOGY; PRESCHOOL CHILD; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADENOSINE TRIPHOSPHATASES; ADULT; CATION TRANSPORT PROTEINS; CHILD, PRESCHOOL; CUTIS LAXA; EHLERS-DANLOS SYNDROME; EXONS; FEMALE; GENE DUPLICATION; HUMANS; MALE; MENKES KINKY HAIR SYNDROME; MOLECULAR PROBE TECHNIQUES; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; REAL-TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; YOUNG ADULT;

EID: 80755189626     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-73     Document Type: Article

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