Multiple Local and Recent Founder Effects of TGM1 in Spanish Families

BACKGROUND: Mutations in the TGM1 gene encoding transglutaminase 1 are a major cause of autosomal recessive congenital ichthyosis. In the Galician (NW Spain) population, three mutations, c.2278C>T, c.1223_1227delACAC and c.984+1G>A, were observed at high frequency, representing ∼46%, ∼21% and...

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Detalles Bibliográficos
Autores principales: Fachal, Laura, Rodríguez-Pazos, Laura, Ginarte, Manuel, Toribio, Jaime, Salas, Antonio, Vega, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3325222/
https://www.ncbi.nlm.nih.gov/pubmed/22511925
http://dx.doi.org/10.1371/journal.pone.0033580

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3325222/
https://www.ncbi.nlm.nih.gov/pubmed/22511925
http://dx.doi.org/10.1371/journal.pone.0033580

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