Autosomal dominant hypocalcemia in a Portuguese family: novel mutation in the calcium-sensing receptor gene

2017 ◽  
Author(s):  
Vania Gomes ◽  
Florbela Ferreira ◽  
Catarina Silvestre ◽  
Raquel Castro ◽  
Bugalho Maria Joao
Keyword(s):  
Autosomal Dominant ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Calcium Sensing Receptor ◽  
Calcium Sensing ◽  
Autosomal Dominant Hypocalcemia ◽  
Calcium Sensing Receptor Gene

scholarly journals A Family of Autosomal Dominant Hypocalcemia with an Activating Mutation of Calcium-Sensing Receptor Gene.

2003 ◽  
Vol 50 (1) ◽  
pp. 91-96 ◽  
Author(s):  
NORIKO CHIKATSU ◽  
SUMIYO WATANABE ◽  
YASUHIRO TAKEUCHI ◽  
YASUSHI MURAOSA ◽  
SHINSUKE SASAKI ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Receptor Gene ◽  
Calcium Sensing Receptor ◽  
Calcium Sensing ◽  
Activating Mutation ◽  
Autosomal Dominant Hypocalcemia ◽  
Calcium Sensing Receptor Gene

scholarly journals A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations

2003 ◽  
Vol 3 (1) ◽  
Author(s):  
Peter Felderbauer ◽  
Peter Hoffmann ◽  
Henrik Einwächter ◽  
Kerem Bulut ◽  
Nikolaus Ansorge ◽  
...  
Keyword(s):  
Chronic Pancreatitis ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Calcium Sensing Receptor ◽  
Calcium Sensing ◽  
Calcium Sensing Receptor Gene

Recurrent Acute Pancreatitis Caused by Association of a Novel Mutation of the Calcium-Sensing Receptor Gene and a Heterozygous Mutation of the SPINK1 Gene

Pancreas ◽  
2010 ◽  
Vol 39 (3) ◽  
pp. 420-421 ◽  
Author(s):  
Clotilde Baudry ◽  
Vinciane Rebours ◽  
Pascal Houillier ◽  
Pascal Hammel ◽  
Philippe Ruszniewski ◽  
...  
Keyword(s):  
Acute Pancreatitis ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Heterozygous Mutation ◽  
Calcium Sensing Receptor ◽  
Recurrent Acute Pancreatitis ◽  
Calcium Sensing ◽  
Calcium Sensing Receptor Gene
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