PRKN, DJ-1, and PINK1 screening identifies novel splice site mutation in PRKN and two novel DJ-1 mutations

Movement Disorders

Volumn 26, Issue 1, 2011, Pages 80-89

  Ghazavi, Farzaneh ^a   Fazlali, Zeinab ^a   Banihosseini, Setareh Sadat ^b   Hosseini, Sayed Rzgar ^a   Kazemi, Mohammad Hossein ^b   Shojaee, Seyedmehdi ^a   Parsa, Khosro ^c   Sadeghi, Homa ^c   Sina, Farzad ^d   Rohani, Mohammad ^d   Shahidi, Gholam Ali ^d   Ghaemi, Nasser ^a   Ronaghi, Mostafa ^e   Elahi, Elahe ^a  

^a UNIVERSITY OF TEHRAN   (Iran)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d IRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^e ILLUMINA INC   (United States)

Author keywords

Alternative spicing; DJ 1; Mutations; Parkinson's disease; PINK1; PRKN

Indexed keywords

DJ 1 PROTEIN; PARKIN; PTEN INDUCED PUTATIVE KINASE 1; RING FINGER PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; ARTICLE; CONTROLLED STUDY; DISEASE DURATION; EXON; FEMALE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC SCREENING; GENETIC TRANSCRIPTION; HETEROZYGOTE; HUMAN; IRAN; LEUKOCYTE; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; ONSET AGE; PARKINSON DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; CHILD; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; IRAN; LACTONES; MALE; MIDDLE AGED; MUTATION; ONCOGENE PROTEINS; PARKINSON DISEASE; PROTEIN KINASES; TERPENES; UBIQUITIN-PROTEIN LIGASES; YOUNG ADULT;

EID: 79951503166     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23417     Document Type: Article

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