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

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2006-01, Vol.140A (1), p.98-101
Main Authors: Mora, Stefano, Zamproni, Ilaria, Proverbio, Maria Carla, Bozzetti, Valentina, Chiumello, Giuseppe, Weber, Giovanna
Format: Article
Language:English
Subjects:
Biological and medical sciences
DNA Mutational Analysis
Heterozygote
Humans
Hypocalcemia - blood
Hypocalcemia - genetics
Hypocalcemia - pathology
Infant
Male
Medical genetics
Medical sciences
Mutation, Missense
Parathyroid Hormone - blood
Phenotype
Receptors, Calcium-Sensing - genetics
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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.31054