Genomic architecture at the incontinentia pigmenti locus favours de novo pathological alleles through different mechanisms

Human Molecular Genetics

Volumn 21, Issue 6, 2012, Pages 1260-1271

  Fusco, Francesca ^a   Paciolla, Mariateresa ^a,b   Napolitano, Federico ^a   Pescatore, Alessandra ^a   D'addario, Irene ^c   Bal, Elodie ^d   Lioi, Maria Brigida ^b   Smahi, Asma ^d   Miano, Maria Giuseppina ^a   Ursini, Matilde Valeria ^a  

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

^b UNIVERSITY OF BASILICATA   (Italy)

^c IRCCS   (Italy)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CELL DIFFERENTIATION; CLINICAL ARTICLE; CONTROLLED STUDY; DOWN REGULATION; FEMALE; GENE CONVERSION; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC ORGANIZATION; GENETIC SUSCEPTIBILITY; HUMAN; INCONTINENTIA PIGMENTI; KERATINOCYTE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEGMENTAL DUPLICATION; TANDEM REPEAT;

ALLELES; CELL DIFFERENTIATION; CELLS, CULTURED; FEMALE; GENOMICS; GLUCOSEPHOSPHATE DEHYDROGENASE; HOMOLOGOUS RECOMBINATION; HUMANS; I-KAPPA B KINASE; INCONTINENTIA PIGMENTI; KERATINOCYTES; MALE; MICROSATELLITE REPEATS; PROMOTER REGIONS, GENETIC; PSEUDOGENES; REAL-TIME POLYMERASE CHAIN REACTION; REPETITIVE SEQUENCES, NUCLEIC ACID; RNA, MESSENGER; SEQUENCE DELETION;

EID: 84857665369     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr556     Document Type: Article

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