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收藏Gene Mutations in Chronic Kidney Disease Patients With Secondary Hyperparathyroidism and Sagliker Syndrome
Demirhan, Osman; Arslan, Ahmet; Sagliker, Yahya; Akbal, Eylul; Ergun, Sercan; Bayraktar, Recep; Sagliker, Hasan Sabit; Dogan, Ekrem; Gunesacar, Ramazan; Ozkaynak, Piril Sagliker
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收藏International Evaluation of Unrecognizably Uglifying Human Faces in Late and Severe Secondary Hyperparathyroidism in Chronic Kidney Disease. Sagliker Syndrome. A Unique Catastrophic Entity, Cytogenetic Studies for Chromosomal Abnormalities, Calcium-Sensing Receptor Gene and GNAS1 Mutations. Striking and Promising Missense Mutations on the GNAS1 Gene Exons 1, 4, 10, 4
Yildiz, Ismail; Sagliker, Yahya; Demirhan, Osman; Tunc, Erdal; Inandiklioglu, Nihal; Tasdemir, Deniz; Acharya, Vidya; Zhang, Ling; Golea, Ovidia; Sabry, Alaa; Ookalkar, Dhananjay S.; Capusa, Cristina; Radulescu, Dana; Garneata, Liliana; Mircescu, Gabriel; Ben Maiz, Hedi; Chen, Cheng Hsu; Rome, Jorge Prado; Benzegoutta, Mansour; Paylar, Nuray; Eyuboglu, Kamil; Karatepe, Ersin; Esenturk, Mustafa; Yavascan, Onder; Grzegorzevska, Alicza; Shilo, Valery; Mazdeh, Mitra Mahdavi; Francesco, Ramos Carillo; Gouda, Zaghloul; Adam, Siddik Momin; Emir, Idris; Ocal, Faith; Usta, Erol; Kiralp, Necati; Sagliker, Cemal; Ozkaynak, Piril Sagliker; Sagliker, Hasan Sabit; Bassuoni, Mahmoud; Sekin, Oktay
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收藏The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q
Coucke, P; VanCamp, G; Demirhan, O; Kabakkaya, Y; Balemans, W; VanHauwe, P; VanAgtmael, T; Smith, RJH; Parving, A; Bolder, CHHM; Cremers, CWRJ; Willems, PJ
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