Familial hypocalciuric hypercalcemia other diagnostic studies: Difference between revisions
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==Overview== | ==Overview== | ||
The [[gene]] responsible for [[familial hypocalciuric hypercalcemia]] maps to [[Chromosome 3 (human)|chromosome 3]]<nowiki/>q. | |||
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==Other Diagnostic Studies== | ==Other Diagnostic Studies== | ||
Other diagnostic studies helpful in the [[diagnosis]] of [[familial hypocalciuric hypercalcemia]] are:<ref name="urlThe gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families - Nature Genetics">{{cite web |url=https://www.nature.com/ng/journal/v1/n4/abs/ng0792-295.html |title=The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families - Nature Genetics |format= |work= |accessdate=}}</ref><ref name="urlMutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism - ScienceDirect">{{cite web |url=http://www.sciencedirect.com/science/article/pii/009286749390617Y |title=Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism - ScienceDirect |format= |work= |accessdate=}}</ref> | |||
*[[DNA sequencing|DNA sequencing test]] | |||
**Detects the following [[mutations]] of CASR [[gene]] | |||
***[[Point mutation|Point mutations]] | |||
***[[Insertions]] | |||
***Rearrangements in the [[Coding sequence|coding sequences]] | |||
==References== | ==References== |
Latest revision as of 18:28, 2 October 2017
Familial hypocalciuric hypercalcemia Microchapters |
Differentiating Familial Hypocalciuric Hypercalcemia from other Diseases |
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Diagnosis |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q.
Other Diagnostic Studies
Other diagnostic studies helpful in the diagnosis of familial hypocalciuric hypercalcemia are:[1][2]
- DNA sequencing test
- Detects the following mutations of CASR gene
- Point mutations
- Insertions
- Rearrangements in the coding sequences
- Detects the following mutations of CASR gene