Microdeletion/duplication at the Xq28 IP Locus causes a de novo IKBKG/NEMO/IKKgamma exon4-10 deletion in families with incontinentia pigmenti

Human Mutation

Volumn 30, Issue 9, 2009, Pages 1284-1291

  Fusco, Francesca ^a   Paciolla, Mariateresa ^a,b   Pescatore, Alessandra ^a   Lioi, Maria Brigida ^b   Ayuso, Carmen ^c   Faravelli, Francesca ^d   Gentile, Mattia ^e   Zollino, Marcella ^f   D'Urso, Michele ^a   Miano, Maria Giuseppina ^a   Ursini, Matilde Valeria ^a  

^a INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^b UNIVERSITY OF BASILICATA   (Italy)

^c Jimenez Diaz Foundation   (Spain)

^d GALLIERA HOSPITAL   (Italy)

^e NATIONAL INSTITUTE FOR DIGESTIVE DISEASES   (Italy)

^f CATHOLIC UNIVERSITY   (Italy)

Author keywords

CNV; IKBKG; IKKgamma; Incontinentia Pigmenti; NAHR; NEMO; Pseudogene

Indexed keywords

DNA; I KAPPA B KINASE GAMMA;

ALLELE; ARTICLE; CHROMOSOME XQ; CHROMOSOME XQ28; CONTROLLED STUDY; DNA DETERMINATION; EXON; FAMILY; FEMALE; GENE; GENE DELETION; GENE DUPLICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; IKBKG GENE; IKKGAMMA GENE; INCONTINENTIA PIGMENTI; IP 516 GENE; IP 688 GENE; MAJOR CLINICAL STUDY; MALE; MEIOSIS; MER67BDUP GENE; MITOSIS; MITOTIC RECOMBINATION; NAHR GENE; NEMO GENE; NUCLEOTIDE SEQUENCE; PARENT; POPULATION; PRIORITY JOURNAL; PSEUDOGENE; QUANTITATIVE ANALYSIS; RISK;

BASE SEQUENCE; CHROMOSOMES, HUMAN, X; EXONS; FAMILY; FEMALE; GENE DUPLICATION; HUMANS; I-KAPPA B KINASE; INCONTINENTIA PIGMENTI; MALE; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; PEDIGREE; SEQUENCE DELETION;

EID: 69549116228     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21069     Document Type: Article

References (24)

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