Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations

Neurogenetics

Volumn 12, Issue 4, 2011, Pages 263-271

  Elfferich, Peter ^a   Verleun Mooijman, Marja C ^a   Maat Kievit, J Anneke ^a   Van De Warrenburg, Bart P C ^b   Abdo, Wilson F ^b   Eshuis, Sylvia A ^c   Leenders, Klaus L ^c   Hovestadt, Ad ^d   Zijlmans, Jan C M ^e   Stroy, Jan Pieter M ^e   Van Swieten, John C ^a   Boon, Agnita J W ^a   Van Engelen, Klaartje ^f   Verschuuren Bemelmans, Corien C ^c   Lesnik Oberstein, Saskia A J ^g   Tassorelli, Cristina ^h   Lopiano, Leonardo ⁱ   Bonifati, Vincenzo ^a   Dooijes, Dennis ^j   Van Minkelen, Rick ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d MEANDER MEDICAL CENTER   (Netherlands)

^e AMPHIA HOSPITAL   (Netherlands)

^f ACADEMIC MEDICAL CENTER   (Netherlands)

^g LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^h C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

ⁱ UNIVERSITY OF TURIN   (Italy)

^j UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

more..

Author keywords

Breakpoint mapping; Common founder; Deletion; Duplication; Parkin; Parkinson's disease

Indexed keywords

ADULT; AGED; ARTICLE; CHROMOSOME BREAKAGE; CLINICAL ARTICLE; EXON; FEMALE; GENE; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE MAPPING; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; HAPLOTYPE; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PARKIN GENE; PARKINSON DISEASE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; CHROMOSOME BREAKPOINTS; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE DELETION; GENE DUPLICATION; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE; PEDIGREE; POLYMERASE CHAIN REACTION; UBIQUITIN-PROTEIN LIGASES; YOUNG ADULT;

EID: 84855274634     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-011-0302-9     Document Type: Article

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