Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease

Clinical Genetics

Volumn 82, Issue 1, 2012, Pages 77-82

  Kim, S Y ^a,b   Seong, M W ^a   Jeon, B S ^a   Ko, H S ^a   Kim, J Y ^a   Park, S S ^a  

^a Seoul National University Hospital   (South Korea)

^b National Medical Center   (South Korea)

Author keywords

Early onset Parkinson disease; Korean; Mutation; PARK2; Phase determination

Indexed keywords

DJ 1 PROTEIN; PARK2 PROTEIN; PEPTIDES AND PROTEINS; PINK1 PROTEIN; PROTEIN; SNCA PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; DNA POLYMORPHISM; EARLY ONSET PARKINSON DISEASE; EXON REARRANGEMENT; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE REARRANGEMENT; GENE SEQUENCE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PARKINSON DISEASE; POINT MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; SCHOOL CHILD; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; AGE OF ONSET; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; EXONS; FEMALE; GENE DOSAGE; HETEROZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PARKINSON DISEASE; POINT MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE DELETION; UBIQUITIN-PROTEIN LIGASES;

EID: 83255180034     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01693.x     Document Type: Article

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