Cargando…
A novel homozygous mutation of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia
Autores principales: | Li, Nan, Li, Xiang, Ni, Xiao-Lin, Li, Xiu-Ying, Xia, Wei-Bo, Yang, Guo-Qing, Pei, Yu |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8367063/ https://www.ncbi.nlm.nih.gov/pubmed/34397587 http://dx.doi.org/10.1097/CM9.0000000000001568 |
Ejemplares similares
-
Functional Assessment of Calcium-Sensing Receptor Variants Confirms Familial Hypocalciuric Hypercalcemia
por: Mullin, Benjamin H, et al.
Publicado: (2022) -
Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor
por: Taki, Katsumi, et al.
Publicado: (2015) -
SAT-351 A Novel Mutation in the Calcium-Sensing Receptor Gene Presenting in a Kindred as Autosomal Dominant Familial Hypocalciuric Hypercalcemia
por: Bushman, Jordan, et al.
Publicado: (2020) -
Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia
por: Papadopoulou, Anna, et al.
Publicado: (2016) -
Primary Hyperparathyroidism in Homozygous Sickle Cell Patients: A Hemolysis-Mediated Hypocalciuric Hypercalcemia Phenotype?
por: Khan, Edmat Akhtar, et al.
Publicado: (2021)