A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 7, 2010, Pages 3512-3516

  Mirczuk, Samantha M ^a   Bowl, Michael R ^a   Nesbit, M Andrew ^a   Cranston, Treena ^b   Fratter, Carl ^b   Allgrove, Jeremy ^c,d   Brain, Caroline ^d   Thakker, Rajesh V ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b CHURCHILL HOSPITAL   (United Kingdom)

^c ROYAL LONDON HOSPITAL   (United Kingdom)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALFACALCIDOL; ASPARAGINE; CALCIUM; DNA; GLIAL CELL MISSING HOMOLOG B PROTEIN; HISTIDINE; LUCIFERASE; PARATHYROID HORMONE; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; GCM2 PROTEIN, HUMAN; NUCLEAR PROTEIN;

ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CELL NUCLEUS; CELL STRAIN COS7; CODON; DNA SEQUENCE; EXON; FLUORESCENCE MICROSCOPY; GEL MOBILITY SHIFT ASSAY; GENETIC TRANSFECTION; GLIA CELL; HUMAN; HYPOCALCEMIA; HYPOPARATHYROIDISM; INFORMED CONSENT; LEUKOCYTE; MALE; MISSENSE MUTATION; MUTANT; NONHUMAN; PARATHYROID GLAND; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SEQUENCE ANALYSIS; TRANSACTIVATION; WILD TYPE; GENETICS; WESTERN BLOTTING;

BLOTTING, WESTERN; ELECTROPHORETIC MOBILITY SHIFT ASSAY; HUMANS; HYPOPARATHYROIDISM; MICROSCOPY, FLUORESCENCE; MUTATION, MISSENSE; NUCLEAR PROTEINS; POLYMERASE CHAIN REACTION; TRANSCRIPTION FACTORS;

EID: 77954938221     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-2532     Document Type: Article

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