Exome Sequencing Finds a Novel PCSK1 Mutation in a Child With Generalized Malabsorptive Diarrhea and Diabetes Insipidus

OBJECTIVES: Congenital diarrhea disorders are a group of genetically diverse and typically autosomal recessive disorders that have yet to be well characterized phenotypically or molecularly. Diagnostic assessments are generally limited to nutritional challenges and histologic evaluation, and many su...

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Main Authors: Yourshaw, Michael, Solorzano-Vargas, R. Sergio, Pickett, Lindsay A., Lindberg, Iris, Wang, Jiafang, Cortina, Galen, Pawlikowska-Haddal, Anna, Baron, Howard, Venick, Robert S., Nelson, Stanley F., Martín, Martín G.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4170062/
https://ncbi.nlm.nih.gov/pubmed/24280991
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MPG.0b013e3182a8ae6c
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