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A pediatric case of hypomagnesemia 1 (HOMG1) caused by novel compound heterozygous mutations in TRPM6

Hypomagnesemia 1 (HOMG1) is an extremely rare disease with autosomal recessive inheritance that is caused by mutations in the transient receptor potential melastatin 6 gene (TRPM6). Here, we describe a pediatric HOMG1 case with novel compound heterozygous mutations of TRPM6 (c.1483 C > T [p.Gln49...

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Detalles Bibliográficos
Autores principales:	Goda, Takeshi, Komatsu, Hiroshi, Nozu, Kandai, Nakajima, Hisakazu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2019
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6403217/ https://www.ncbi.nlm.nih.gov/pubmed/30911400 http://dx.doi.org/10.1038/s41439-019-0043-0

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