Comprehensive Next-Generation Sequencing Analyses of Hypoparathyroidism: Identification of NovelGCM2Mutations | Zendy

Toshikatsu Mitsui | Zendy; Satoshi Narumi | Zendy; Mikako Inokuchi | Zendy; Keisuke Nagasaki | Zendy; Mie Nakazawa | Zendy; Goro Sasaki | Zendy; Tomonobu Hasegawa | Zendy

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Comprehensive Next-Generation Sequencing Analyses of Hypoparathyroidism: Identification of NovelGCM2Mutations

Author(s) -

Toshikatsu Mitsui,

Satoshi Narumi,

Mikako Inokuchi,

Keisuke Nagasaki,

Mie Nakazawa,

Goro Sasaki,

Tomonobu Hasegawa

Publication year - 2014

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2014-2174

Subject(s) - biology , genetics , digital polymerase chain reaction , gata3 , exon , single nucleotide polymorphism , gene , mutation , medicine , polymerase chain reaction , genotype , transcription factor

In most patients with hypoparathyroidism (HP), the etiology is not defined clinically. Eight genes (AIRE, CASR, CLDN16, GATA3, GCM2, PTH, TBCE, and TRPM6) are known to be responsible genes associated with HP; however, no previous study has screened the eight responsible genes comprehensively in HP patients.

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