Alterations of the IKBKG locus and diseases: An update and a report of 13 novel mutations

Human Mutation

Volumn 29, Issue 5, 2008, Pages 595-604

  Fusco, Francesca ^a   Pescatore, Alessandra ^a   Bal, Elodie ^b   Ghoul, Aida ^b   Paciolla, Mariateresa ^a,c   Lioi, Maria Brigida ^c   D'Urso, Michele ^a   Rabia, Smail Hadj ^b   Bodemer, Christine ^b   Bonnefont, Jean Paul ^b   Munnich, Arnold ^b   Miano, Maria Giuseppina ^a   Smahi, Asma ^b   Ursini, Matilde Valeria ^a,d  

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

^b INSERM   (France)

^c UNIVERSITY OF BASILICATA   (Italy)

^d NONE   (Italy)

Author keywords

Anhidrotic ectodermal dysplasia with immunodeficiency; Hotspot mutation; IKBKG mutations; Incontinentia pigmenti

Indexed keywords

IMMUNOGLOBULIN ENHANCER BINDING PROTEIN;

CHROMOSOME NOR; CHROMOSOME XQ; CLINICAL FEATURE; DNA SPLICING; ECTODERMAL DYSPLASIA; EXON; FRAMESHIFT MUTATION; GENE LOCUS; GENE MUTATION; GENE REARRANGEMENT; GENETIC COUNSELING; HUMAN; IMMUNE DEFICIENCY; INCIDENCE; INHERITANCE; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PLEIOTROPY; PRIORITY JOURNAL; REVIEW;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHROMOSOMES, HUMAN, X; DNA; ECTODERMAL DYSPLASIA; FEMALE; HUMANS; I-KAPPA B KINASE; INCONTINENTIA PIGMENTI; MALE; MICE; MOLECULAR SEQUENCE DATA; MOSAICISM; MUTATION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 42949154156     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20739     Document Type: Review

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