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Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome

Heterozygous mutations in the PHOX2B gene are causative of congenital central hypoventilation syndrome (CCHS), a neurocristopathy characterized by defective autonomic control of breathing due to the impaired differentiation of neural crest cells. Among PHOX2B mutations, polyalanine (polyAla) expansi...

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Detalles Bibliográficos
Autores principales:	Di Lascio, Simona, Benfante, Roberta, Di Zanni, Eleonora, Cardani, Silvia, Adamo, Annalisa, Fornasari, Diego, Ceccherini, Isabella, Bachetti, Tiziana
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5846889/ https://www.ncbi.nlm.nih.gov/pubmed/29098737 http://dx.doi.org/10.1002/humu.23365

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