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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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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Public Library of Science
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3325222/ https://ncbi.nlm.nih.gov/pubmed/22511925 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0033580 |
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