A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti

Ectodermal dysplasias (EDs) are a large and heterogeneous group of hereditary disorders characterized by abnormalities in structures of ectodermal origin. Incontinentia pigmenti (IP) is an ED characterized by skin lesions evolving over time, as well as dental, nail, and ocular abnormalities. Due to...

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Veröffentlicht in:	PloS one 2013-12, Vol.8 (12), p.e81625-e81625
Hauptverfasser:	Towers, Rachel E, Murgiano, Leonardo, Millar, David S, Glen, Elise, Topf, Ana, Jagannathan, Vidhya, Drögemüller, Cord, Goodship, Judith A, Clarke, Angus J, Leeb, Tosso
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities Alopecia Analysis Animals Baldness Base Sequence Birth Codon, Nonsense - genetics Coloration Data processing Dysplasia Exons - genetics Exudation Eye diseases Female Females Gene sequencing Genes Genetic aspects Genetics Genome - genetics Genomes Genomics Heredity Homology Horses Horses - genetics Humans I-kappa B Kinase - genetics IKBKG gene Incontinentia Pigmenti Incontinentia Pigmenti - genetics Kinases Lesions Male Males Medical screening Medicine Molecular Sequence Data Mutation Nonsense mutation Nucleotide sequence Pedigree Phenotype Phosphorylation RNA, Messenger - genetics RNA, Messenger - metabolism Sequence Analysis, DNA Signal transduction Skin Skin diseases Transcription factors
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