Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

Alagille syndrome (ALGS) is an autosomal dominant disorder characterized by developmental abnormalities in several organs including the liver, heart, eyes, vertebrae, kidneys, and face. The majority (90-94 %) of ALGS cases are caused by mutations in the JAG1 (JAGGED1) gene, and in a small percent of...

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Detalhes bibliográficos
Principais autores: Jurkiewicz, Dorota, Gliwicz, Dorota, Ciara, Elżbieta, Gerfen, Jennifer, Pelc, Magdalena, Piekutowska-Abramczuk, Dorota, Kugaudo, Monika, Chrzanowska, Krystyna, Spinner, Nancy B., Krajewska-Walasek, Małgorzata
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2014
Assuntos:
Human Genetics • Original Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4102774/
https://ncbi.nlm.nih.gov/pubmed/24748328
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-014-0212-2
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