A novel mutation in the GATA3 gene of a Japanese patient with PTH-deficient hypoparathyroidism

Journal of Bone and Mineral Metabolism

Volumn 27, Issue 3, 2009, Pages 386-389

  Saito, Tasuku ^a   Fukumoto, Seiji ^a   Ito, Nobuaki ^a   Suzuki, Hisanori ^a   Igarashi, Takashi ^a   Fujita, Toshiro ^a  

^a UNIVERSITY OF TOKYO HOSPITAL   (Japan)

Author keywords

GATA3; HDR syndrome; Hypoparathyroidism

Indexed keywords

COLECALCIFEROL; PARATHYROID HORMONE; TRANSCRIPTION FACTOR GATA 3;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; EXON; GENE MUTATION; HEARING DISORDER; HUMAN; IDIOPATHIC HYPOPARATHYROIDISM; JAPANESE; LABORATORY TEST; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; STOP CODON;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; GATA3 TRANSCRIPTION FACTOR; HUMANS; HYPOPARATHYROIDISM; JAPAN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PARATHYROID HORMONE;

EID: 64949185976     PISSN: 09148779     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00774-008-0015-9     Document Type: Article

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