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SUN-129 Early Onset Of MODY 5 Due To The Haploinsufficency HNF1B Gene As Part Of 17q12 Deletion

The 1.4 MB deletion in the 17q12 region causes a contiguous gene syndrome, which was recently named 17q12 Deletion Syndrome. This region encompasses the Hepatocyte Nuclear Factor 1ß gene (HNF1ß), which plays an important role in the formation of kidneys, pancreas, liver, brain and genital tract. The...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Bustamante Escobar, Carmen, Sanchez, Janine, Ukarapong, Supamit
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6553130/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-129
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