Literature DB >> 16333828

Severe hypocalcemia due to a de novo mutation in the fifth transmembrane domain of the calcium-sensing receptor.

Stefano Mora, Ilaria Zamproni, Maria Carla Proverbio, Valentina Bozzetti, Giuseppe Chiumello, Giovanna Weber.   

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Year:  2006        PMID: 16333828     DOI: 10.1002/ajmg.a.31054

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  1 in total

1.  Autosomal Dominant Hypocalcemia Type 1 (ADH1) Associated With Myoclonus and Intracerebral Calcifications.

Authors:  Marianne S Elston; Taha Elajnaf; Fadil M Hannan; Rajesh V Thakker
Journal:  J Endocr Soc       Date:  2022-03-18
  1 in total

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