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ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications.

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dc.contributor.authorEsperón-Moldes, Uxia
dc.contributor.authorGinarte, Manuel
dc.contributor.authorRodríguez-Pazos, Laura
dc.contributor.authorFachal, Laura
dc.contributor.authorPozo, Tomás
dc.contributor.authorAguilar, Jesús Luelmo
dc.contributor.authorDel Boz González, Javier
dc.contributor.authorSantiago, Ana Martín
dc.contributor.authorVega, Ana
dc.date.accessioned2023-01-25T10:11:09Z
dc.date.available2023-01-25T10:11:09Z
dc.date.issued2018-06-05
dc.identifier.doi10.1016/j.jdermsci.2018.05.012
dc.identifier.essn1873-569X
dc.identifier.pmid29887490
dc.identifier.urihttp://hdl.handle.net/10668/12572
dc.issue.number3
dc.journal.titleJournal of dermatological science
dc.journal.titleabbreviationJ Dermatol Sci
dc.language.isoen
dc.organizationHospital Costa del Sol
dc.page.number328-331
dc.pubmedtypeLetter
dc.subject.meshATP-Binding Cassette Transporters
dc.subject.meshCodon, Nonsense
dc.subject.meshDNA Mutational Analysis
dc.subject.meshFemale
dc.subject.meshFounder Effect
dc.subject.meshGenetic Association Studies
dc.subject.meshGenetic Predisposition to Disease
dc.subject.meshHaplotypes
dc.subject.meshHeredity
dc.subject.meshHumans
dc.subject.meshIchthyosiform Erythroderma, Congenital
dc.subject.meshIchthyosis, Lamellar
dc.subject.meshMale
dc.subject.meshMutation, Missense
dc.subject.meshPhenotype
dc.subject.meshSpain
dc.titleABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications.
dc.typeresearch article
dc.volume.number91
dspace.entity.typePublication

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