SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation

Human Mutation

Volumn 30, Issue 3, 2009, Pages 371-378

  Kamath, Binita M ^a   Thiel, Brian D ^a   Gai, Xiaowu ^a   Conlin, Laura K ^a   Munoz, Pedro S ^a   Glessner, Joseph ^a   Clark, Dinah ^a   Warthen, Daniel M ^a   Shaikh, Tamim H ^a   Mihci, Ercan ^b   Piccoli, David A ^a   Grant, Struan F A ^a   Hakonarson, Hakon ^a   Krantz, Ian D ^a   Spinner, Nancy B ^a,c  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b AKDENIZ UNIVERSITY   (Turkey)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

20p deletion; Alagille syndrome; Copy number variants; Haploinsufficiency; JAG1; SNP array analysis

Indexed keywords

JAGGED1;

ALAGILLE SYNDROME; ARTICLE; AUTISM; CHROMOSOME 20P; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; GENE DELETION; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; PHENOTYPE; PRIORITY JOURNAL; SCOLIOSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ALAGILLE SYNDROME; CALCIUM-BINDING PROTEINS; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 20; FEMALE; GENE DOSAGE; GENOME, HUMAN; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; KARYOTYPING; MALE; MEMBRANE PROTEINS; MICROARRAY ANALYSIS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 61649106714     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20863     Document Type: Article

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