Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism

Journal of Clinical Endocrinology and Metabolism

Volumn 93, Issue 9, 2008, Pages 3568-3576

  Mannstadt, Michael ^a   Bertrand, Guylène ^b   Muresan, Mihaela ^c   Weryha, Georges ^c   Leheup, Bruno ^c   Pulusani, Sirish R ^a   Grandchamp, Bernard ^b   Jüppner, Harald ^a   Silve, Caroline ^b,d  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b BICHAT HOSPITAL   (France)

^c UNIVERSITY HOSPITAL OF NANCY   (France)

^d HÔPITAL SAINT VINCENT DE PAUL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; GENOMIC DNA; LUCIFERASE;

AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMINAL DOMINANT HYPOPARATHYROIDISM; BLOOD ANALYSIS; CARBOXY TERMINAL SEQUENCE; EXON; FAMILY; FRAMESHIFT MUTATION; GENETIC DISORDER; GLIA CELL; GLIAL CELLS MISSING B; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPOCALCEMIA; HYPOPARATHYROIDISM; MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; WESTERN BLOTTING; WILD TYPE;

EID: 51649117372     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2007-2167     Document Type: Article

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