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Identification, by Homozygosity Mapping, of a Novel Locus for Autosomal Recessive Congenital Ichthyosis on Chromosome 17p, and Evidence for Further Genetic Heterogeneity

Autosomal recessive congenital ichthyosis (ARCI) comprises a group of severe disorders of keratinization, characterized by variable erythema and skin scaling. It is known for its high degree of genetic and clinical heterogeneity. Mutations in the gene for keratinocyte transglutaminase (TGM1) on chro...

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Detalhes bibliográficos
Main Authors: Krebsová, Alice, Küster, Wolfgang, Lestringant, Gilles G., Schulze, Bernt, Hinz, Britta, Frossard, Philippe M., Reis, André, Hennies, Hans Christian
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2001
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226037/
https://ncbi.nlm.nih.gov/pubmed/11398099
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