Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: Evidence for an autosomal recessive form of PHP-Ib?


Fernández-Rebollo E., Pérez De Nanclares G., Lecumberri B., Turan S., Anda E., Pérez-Nanclares G., ...Daha Fazla

Journal of Bone and Mineral Research, cilt.26, sa.8, ss.1854-1863, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 26 Sayı: 8
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1002/jbmr.408
  • Dergi Adı: Journal of Bone and Mineral Research
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1854-1863
  • Anahtar Kelimeler: PARATHYROID HORMONE, PSEUDOHYPOPARATHYROIDISM IB, GNAS LOCUS, METHYLATION, AUTOSOMAL RECESSIVE, PSEUDOHYPOPARATHYROIDISM TYPE-IB, IMPRINTING CONTROL ELEMENT, EPIGENETIC DEFECTS, HEREDITARY OSTEODYSTROPHY, MUTATIONS, DELETION, DOMINANT, HYPOMETHYLATION, FEATURES, LEADS
  • Marmara Üniversitesi Adresli: Evet