Segregation analysis revealed hemizygotic causative mutations in a pseudoxanthoma elasticum patient

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Veröffentlicht in:	Journal of the European Academy of Dermatology and Venereology 2018-09, Vol.32 (9), p.e365-e366
Hauptverfasser:	Perazzolli, G., Girolomoni, G., Colato, C., Quaglino, D.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Chromosome Segregation Female Hemizygote Humans Multidrug Resistance-Associated Proteins - genetics Mutation Pseudoxanthoma Elasticum - genetics
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creator	Perazzolli, G. Girolomoni, G. Colato, C. Quaglino, D.
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doi_str_mv	10.1111/jdv.14939
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source	MEDLINE; Wiley Online Library All Journals
subjects	Adult Chromosome Segregation Female Hemizygote Humans Multidrug Resistance-Associated Proteins - genetics Mutation Pseudoxanthoma Elasticum - genetics
title	Segregation analysis revealed hemizygotic causative mutations in a pseudoxanthoma elasticum patient
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