Atıf İçin Kopyala
DEMİRCİOĞLU S., Thiele S., Tafaj O., Brix B., Atay Z., ABALI S., ...Daha Fazla
BONE, cilt.71, ss.53-57, 2015 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
71
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Basım Tarihi:
2015
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Doi Numarası:
10.1016/j.bone.2014.10.006
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Dergi Adı:
BONE
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED)
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Sayfa Sayıları:
ss.53-57
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Anahtar Kelimeler:
Pseudohypoparathyroidism, Pseudopseudohypoparathyroidism, GNAS, Hormone resistance, XL-ALPHA-S, ALBRIGHT HEREDITARY OSTEODYSTROPHY, MATERNAL TRANSMISSION, GENE, PSEUDOPSEUDOHYPOPARATHYROIDISM, DEFICIENCY, G(S)ALPHA, IA, PATHOGENESIS, ASSOCIATION
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Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli:
Hayır
Özet
Context: Loss-of-function GNAS mutations lead to hormone resistance and Albright's hereditary osteodystrophy (AHO) when maternally inherited, i.e. pseudohypoparathyroidism-Ia (PHPIa), but cause AHO alone when located on the paternal allele, i.e. pseudoPHP (PPHP).