| 1 | CASR, HPT2
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| A novel gain-of-function mutation (F821L) in the transmembrane domain of calcium-sensing receptor is a cause of severe sporadic hypoparathyroidism.
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| Shiohara M, Mori T, Mei B, Brown EM, Watanabe T, Yasuda T.
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| Eur J Pediatr 163(2):94-8. Epub 2003 Dec 16. 2004
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| 2 | CASR, HPT2
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| A Ca(2+)-sensing receptor mutation causes hypoparathyroidism by increasing receptor sensitivity to Ca2+ and maximal signal transduction.
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| Mancilla EE, De Luca F, Ray K, Winer KK, Fan GF, Baron J.
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| Pediatr Res 42(4):443-7. 1997
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| 3 | HPT2, CASR
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| Mutations in the Ca2+-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism.
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| Baron J, et al.
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| Hum Mol Genet 5 : 601-606. 1996
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| 4 | HPT2, CASR
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| The Ca2+-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism.
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| Lšvlie R, et al.
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| Hum Genet 98 : 129-133. 1996
|