A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease

Neurogenetics

Volumn 10, Issue 3, 2009, Pages 265-270

  Cazeneuve, Cécile ^a   Sân, Channkanira ^a   Ibrahim, Salah A ^b   Mukhtar, Maowia M ^c   Kheir, Musa M ^b   LeGuern, Eric ^a,d   Brice, Alexis ^a,d   Salih, Mustafa A ^e  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b UNIVERSITY OF KHARTOUM   (Sudan)

^c UNIVERSITY OF KHARTOUM   (Sudan)

^d SORBONNE UNIVERSITÉ   (France)

^e KING SAUD UNIVERSITY   (Saudi Arabia)

Author keywords

Autosomal recessive; Complex rearrangement; Early onset Parkinson's disease; Fork Stalling and Template Switching; PARK6; PINK1

Indexed keywords

LEVODOPA; TRIHEXYPHENIDYL; PROTEIN KINASE; PTEN INDUCED PUTATIVE KINASE; PTEN-INDUCED PUTATIVE KINASE;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CONSANGUINITY; DYSKINESIA; DYSTONIA; EXON; FEMALE; GENE; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE REARRANGEMENT; GENE SWITCHING; HOMOZYGOTE; HUMAN; INTRON; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; ONSET AGE; PARKINSON DISEASE; PINK1 GENE; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; SUDAN; CHILD; GENETICS; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE;

ADOLESCENT; ADULT; AGE OF ONSET; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENE REARRANGEMENT; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PARKINSON DISEASE; PROTEIN KINASES; SUDAN; YOUNG ADULT;

EID: 67649964227     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-009-0174-4     Document Type: Article

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