Familial hypocalciuric hypercalcemia other diagnostic studies: Difference between revisions
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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 test | |||
**Detects the following mutations of CASR gene | |||
***Point mutations | |||
***Insertions | |||
***Rearrangements in the coding sequences | |||
==References== | ==References== |
Revision as of 17:51, 28 September 2017
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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