New insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers

Screening of the adenosine triphosphate binding cassette transporter protein subfamily C member 6 gene (ABCC6) in pseudoxanthoma elasticum (PXE) revealed a mutation detection rate of approximately 87%. Although 25% of the unidentified disease alleles underlie deletions/insertions, there remain sever...

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Detalles Bibliográficos
Autores principales: Hendig, Doris, Knabbe, Cornelius, Götting, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2013
Materias:
Physiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3685813/
https://www.ncbi.nlm.nih.gov/pubmed/23802012
http://dx.doi.org/10.3389/fgene.2013.00114

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3685813/
https://www.ncbi.nlm.nih.gov/pubmed/23802012
http://dx.doi.org/10.3389/fgene.2013.00114

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