Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB

Journal of Clinical Investigation

Volumn 108, Issue 8, 2001, Pages 1215-1220

  Ding, C ^a   Buckingham, B ^a   Levine, M A ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR GCMB; UNCLASSIFIED DRUG;

ALLELISM; ARTICLE; CASE REPORT; CONSANGUINITY; DNA FLANKING REGION; EMBRYOLOGY; EXON; FAMILIAL DISEASE; FEMALE; GENE ISOLATION; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPERPHOSPHATEMIA; HYPOCALCEMIA; HYPOPARATHYROIDISM; MICROSATELLITE INSTABILITY; PARATHYROID HORMONE BLOOD LEVEL; PRIORITY JOURNAL; PROTEIN EXPRESSION; TRANSCRIPTION REGULATION;

ALLELES; ANIMALS; BASE SEQUENCE; CHILD, PRESCHOOL; DNA PRIMERS; EXONS; FEMALE; HUMANS; HYPOPARATHYROIDISM; INTRONS; MALE; MICE; MUTATION; NEUROPEPTIDES; NUCLEAR PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; TRANSCRIPTION FACTORS;

EID: 0034772381     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI200113180     Document Type: Article

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