Complex Genomic Rearrangement Within theGNASRegion Associated With Familial Pseudohypoparathyroidism Type 1b | Zendy

Akie Nakamura | Zendy; Erika Hamaguchi | Zendy; Reiko Horikawa | Zendy; Yasuyuki Nishimura | Zendy; Keiko Matsubara | Zendy; Shinichiro Sano | Zendy; Keisuke Nagasaki | Zendy; Yoichi Matsubara | Zendy; Akihiro Umezawa | Zendy; Toshihiro Tajima | Zendy; Tsutomu Ogata | Zendy; Masayo Kagami | Zendy; K. Okamura | Zendy; Maki Fukami | Zendy

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Complex Genomic Rearrangement Within theGNASRegion Associated With Familial Pseudohypoparathyroidism Type 1b

Author(s) -

Akie Nakamura,

Erika Hamaguchi,

Reiko Horikawa,

Yasuyuki Nishimura,

Keiko Matsubara,

Shinichiro Sano,

Keisuke Nagasaki,

Yoichi Matsubara,

Akihiro Umezawa,

Toshihiro Tajima,

Tsutomu Ogata,

Masayo Kagami,

K. Okamura,

Maki Fukami

Publication year - 2016

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.2016-1725

Subject(s) - gnas complex locus , multiplex ligation dependent probe amplification , proband , genetics , differentially methylated regions , exon , biology , pseudohypoparathyroidism , methylation , gene duplication , copy number variation , dna methylation , microbiology and biotechnology , mutation , gene , genome , medicine , parathyroid hormone , gene expression , calcium

Pseudohypoparathyroidism type 1b (PHP-1b) results from methylation defects at the G protein stimulatory α subunit (GNAS) exon A/B-differentially methylated region (DMR). Although microduplications in the GNAS region were recently identified in two PHP-1b patients, genetic information on these patients remained fragmentary.

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