Rapid identification of disease-causing mutations using copy number analysis within linkage intervals

Human Mutation

Volumn 28, Issue 12, 2007, Pages 1236-1240

  Bayrakli, Fatih ^a   Bilguvar, Kaya ^a   Mason, Christopher E ^a   DiLuna, Michael L ^a   Bayri, Yasar ^a   Gungor, Levent ^c   Terzi, Murat ^c   Mane, Shrikant M ^d   Lifton, Richard P ^a   State, Matthew W ^a,b   Gunel, Murat ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c ONDOKUZ MAYIS UNIVERSITY   (Turkey)

^d YALE UNIVERSITY   (United States)

Author keywords

Array; CGH; CNV; Deletion; Mutation; PARK2; PARKIN

Indexed keywords

PARKIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 6Q; CHROMOSOME ANALYSIS; CHROMOSOME IDENTIFICATION; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; GENE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; LINKAGE ANALYSIS; PARK2 GENE; PARKINSONISM; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

GENE DOSAGE; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; LINKAGE (GENETICS); MUTATION; PARKINSONIAN DISORDERS; POLYMORPHISM, SINGLE NUCLEOTIDE; UBIQUITIN-PROTEIN LIGASES;

EID: 37049039505     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20592     Document Type: Article

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