Severe hypocalcemia due to a de novo mutation in the fifth transmembrane domain of the calcium-sensing receptor [3]

American Journal of Medical Genetics

Volumn 140 A, Issue 1, 2006, Pages 98-101

  Mora, Stefano ^a,c   Zamproni, Ilaria ^a   Proverbio, Maria Carla ^b   Boxzetti, Valentina ^a   Chiumello, Giuseppe ^a   Weber, Giovanna ^a  

^a VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c Laboratory of Pediatric Endocrinology   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIFEDIOL; CALCITRIOL; CALCIUM; CALCIUM ION; CALCIUM SENSING RECEPTOR; G PROTEIN COUPLED RECEPTOR; GENOMIC DNA; GLUCONATE CALCIUM; MAGNESIUM; PARATHYROID HORMONE; THIAZIDE DIURETIC AGENT;

AUTOSOMAL DOMINANT INHERITANCE; CALCIUM BLOOD LEVEL; CASE REPORT; CELL MEMBRANE; CHILD; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE ACTIVITY; DISEASE SEVERITY; ECHOGRAPHY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; HYPOCALCEMIA; HYPOPARATHYROIDISM; KARYOTYPE 46,XY; KIDNEY CALCIFICATION; LETTER; MALE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; SIDE EFFECT;

DNA MUTATIONAL ANALYSIS; HETEROZYGOTE; HUMANS; HYPOCALCEMIA; INFANT; MALE; MUTATION, MISSENSE; PARATHYROID HORMONE; PHENOTYPE; RECEPTORS, CALCIUM-SENSING;

EID: 30144436347     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31054     Document Type: Letter

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