Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism

Journal of Clinical Endocrinology and Metabolism

Volumn 82, Issue 8, 1997, Pages 2716-2719

  Kobayashi, Megumi ^a   Tanaka, Hiroyuki ^a   Tsuzuki, Kazuo ^b   Tsuyuki, Masumi ^b   Igaki, Hiroshi ^b   Ichinose, Youjirou ^a   Aya, Kunihiko ^a   Nishioka, Naho ^c   Seino, Yoshiki ^a  

^a OKAYAMA UNIVERSITY MEDICAL SCHOOL   (Japan)

^b CHUKYO HOSPITAL   (Japan)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

RESTRICTION ENDONUCLEASE;

ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CODON; DISEASE SEVERITY; EXON; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPERPARATHYROIDISM; MISSENSE MUTATION; NEWBORN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENTIAL ANALYSIS; STRUCTURE ACTIVITY RELATION;

ARGININE; AUTOANALYSIS; BASE SEQUENCE; CODON; FEMALE; GLYCINE; HUMANS; HYPERCALCEMIA; HYPERPARATHYROIDISM; INFANT, NEWBORN; JAPAN; MUTATION; PARATHYROID HORMONE; PEDIGREE; POLYMERASE CHAIN REACTION; RECEPTORS, CALCIUM-SENSING; RECEPTORS, CELL SURFACE; SEQUENCE ANALYSIS, DNA;

EID: 0030743057     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.82.8.2716     Document Type: Article

References (20)

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