Descriptor: "Autosomal dominant hypocalcemia" / Publisher: bioscientifica - Searchworks@Jio Institute Digital Library Search Results

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Your search keyword '"Autosomal dominant hypocalcemia"' showing total 5 results

Start Over Descriptor "Autosomal dominant hypocalcemia" Publisher bioscientifica

5 results on '"Autosomal dominant hypocalcemia"'

1. A novel mutation in the calcium sensing receptor GENE IN AN Italian family affected by autosomal dominant hypocalcemia

Author: Laura Mazoni, Giulia Marconcini, Filomena Cetani, Chiara Banti, Simona Borsari, Claudio Marcocci, Elena Pardi, and Federica Saponaro
Subjects: Genetics, Autosomal dominant hypocalcemia, Calcium-sensing receptor, Biology, Novel mutation, Gene
Published: 2018
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2. Disruption of the G-protein subunit [alpha]11 (G[alpha]11) interdomain interface causes autosomal dominant hypocalcemia type-2 (ADH2)

Author: Caroline M Gorvin, Tessa Homfray, Fadil Hannan, Treena Cranston, Rajesh Thakker, and Brian Shine
Subjects: Chemistry, G-Protein Subunit Alpha-11, Autosomal dominant hypocalcemia, Alpha (ethology), Molecular biology
Published: 2017
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3. Autosomal dominant hypocalcemia in a Portuguese family: novel mutation in the calcium-sensing receptor gene

Author: Florbela Ferreira, Catarina Silvestre, Bugalho Maria Joao, Raquel Castro, and Vania Gomes
Subjects: Genetics, Autosomal dominant hypocalcemia, Biology, Calcium-sensing receptor, Novel mutation, Gene
Published: 2017
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4. Studies of an Autosomal Dominant Hypocalcemia type-1 (ADH1) associated calcium-sensing receptor (CaSR) mutation, Arg680Gly, provides insights into biased signalling

Author: Fadil Hannan, Anders J Schou, Caroline M Gorvin, Valerie N. Babinsky, Peter Nissen, and Rajesh Thakker
Subjects: Genetics, medicine.medical_specialty, Endocrinology, Signalling, Internal medicine, Autosomal dominant hypocalcemia, Mutation (genetic algorithm), medicine, Calcium-sensing receptor, Biology
Published: 2016
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5. Autosomal dominant hypocalcemia type 2 is caused by germline GNA11 gain-of-function mutations

Author: Sarah A. Howles, Fadil Hannan, Treena Cranston, Andrew Nesbit, Rajesh Thakker, Valerie N. Babinsky, Nigel Rust, and Rosie A. Head
Subjects: Genetics, Gain of function, GNA11, Autosomal dominant hypocalcemia, Biology, Germline
Published: 2013
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