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Missense mutation

Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia

Xianli Zhang, Yang Liu, Xiaozhe Wang, Xiangyu Sun, Chenying Zhang, Shuguo Zheng

published 24 Jul 2017

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Disease-associated mitochondrial mutations and the evolution of primate mitogenomes

William Corrêa Tavares, Héctor N. Seuánez

published 16 May 2017

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Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss

Amina Bakhchane, Majida Charif, Amale Bousfiha, Redouane Boulouiz, Halima Nahili, Hassan Rouba, Hicham Charoute, Guy Lenaers, Abdelhamid Barakat

published 04 May 2017

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Determining the role of missense mutations in the POU domain of HNF1A that reduce the DNA-binding affinity: A computational approach

Sneha P., Thirumal Kumar D., George Priya Doss C., Siva R., Hatem Zayed

published 14 Apr 2017

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Functional relevance for associations between osteoporosis and genetic variants

Kun Liu, Li-Jun Tan, Peng Wang, Xiang-Ding Chen, Li-Hua Zhu, Qin Zeng, Yuan Hu, Hong-Wen Deng

published 03 Apr 2017

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A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia

Kai Gao, Anel Tankovic, Yujia Zhang, Hirofumi Kusumoto, Jin Zhang, Wenjuan Chen, Wenshu XiangWei, Gil H. Shaulsky, Chun Hu, Stephen F. Traynelis, Hongjie Yuan, Yuwu Jiang

published 09 Feb 2017

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No Evidence for Pathogenic Role of UBQLN2 Mutations in Sporadic Amyotrophic Lateral Sclerosis in the Mainland Chinese Population

Xiao Huang, Shen Shen, Dongsheng Fan

published 26 Jan 2017

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A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis

Wufang Fan, Bei Wang, Shanshan He, Tengfei Zhang, Chenxing Yin, Yunping Chen, Shuqi Zheng, Jixia Zhang, Lin Li

published 28 Dec 2016

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Surveillance of Helicobacter pylori Antibiotic Susceptibility in Indonesia: Different Resistance Types among Regions and with Novel Genetic Mutations

Muhammad Miftahussurur, Ari Fahrial Syam, Iswan Abbas Nusi, Dadang Makmun, Langgeng Agung Waskito, Lukman Hakim Zein, Fardah Akil, Willy Brodus Uwan, David Simanjuntak, I Dewa Nyoman Wibawa, Jimmy Bradley Waleleng, Alexander Michael Joseph Saudale, Fauzi Yusuf, Syifa Mustika, Pangestu Adi, Ummi Maimunah, Hasan Maulahela, Yudith Annisa Ayu Rezkitha, Phawinee Subsomwong, Nasronudin, Dadik Rahardjo, Rumiko Suzuki, Junko Akada, Yoshio Yamaoka

published 01 Dec 2016

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Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts

Bushra Irum, Shahid Y. Khan, Muhammad Ali, Haiba Kaul, Firoz Kabir, Bushra Rauf, Fareeha Fatima, Raheela Nadeem, Arif O. Khan, Saif Al Obaisi, Muhammad Asif Naeem, Idrees A. Nasir, Shaheen N. Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, Allen O. Eghrari, S. Amer Riazuddin

published 04 Nov 2016

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Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases

Seiji Saito, Kazuki Ohno, Torayuki Okuyama, Hitoshi Sakuraba

published 03 Oct 2016

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Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome

Samia Abdi, Amel Bahloul, Asma Behlouli, Jean-Pierre Hardelin, Mohamed Makrelouf, Kamel Boudjelida, Malek Louha, Ahmed Cheknene, Rachid Belouni, Yahia Rous, Zahida Merad, Djamel Selmane, Mokhtar Hasbelaoui, Crystel Bonnet, Akila Zenati, Christine Petit

published 01 Sep 2016

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Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease

Xiaoxia Pan, Yan Ouyang, Zhaohui Wang, Hong Ren, Pingyan Shen, Weiming Wang, Yaowen Xu, Liyan Ni, Xialian Yu, Xiaonong Chen, Wen Zhang, Li Yang, Xiao Li, Jing Xu, Nan Chen

published 25 Aug 2016

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