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Nonsense mutation

Filaggrin Gene Mutation c.3321delA Is Associated with Various Clinical Features of Atopic Dermatitis in the Chinese Han Population

Li Meng, Li Wang, Huayang Tang, Xianfa Tang, Xiaoyun Jiang, Jinhua Zhao, Jing Gao, Bing Li, Xuhui Fu, Yan Chen, Weiyi Yao, Wenying Zhan, Bo Wu, Dawei Duan, Changbing Shen, Hui Cheng, Xianbo Zuo, Sen Yang, Liangdan Sun, Xuejun Zhang

published 23 May 2014

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Mutations in Intron 1 and Intron 22 Inversion Negative Haemophilia A Patients from Western India

Preethi S. Nair, Shrimati D. Shetty, S. Chandrakala, Kanjaksha Ghosh

published 20 May 2014

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CHD7 Deficiency in “Looper”, a New Mouse Model of CHARGE Syndrome, Results in Ossicle Malformation, Otosclerosis and Hearing Impairment

Jacqueline M. Ogier, Marina R. Carpinelli, Benedicta D. Arhatari, R. C. Andrew Symons, Benjamin T. Kile, Rachel A. Burt

published 19 May 2014

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Identification of Two Novel Mutations in the PHEX Gene in Chinese Patients with Hypophosphatemic Rickets/Osteomalacia

Hua Yue, Jin-bo Yu, Jin-wei He, Zeng Zhang, Wen-zhen Fu, Hao Zhang, Chun Wang, Wei-wei Hu, Jie-mei Gu, Yun-qiu Hu, Miao Li, Yu-juan Liu, Zhen-Lin Zhang

published 16 May 2014

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A Truncated Form of Rod Photoreceptor PDE6 β-Subunit Causes Autosomal Dominant Congenital Stationary Night Blindness by Interfering with the Inhibitory Activity of the γ-Subunit

Gaël Manes, Pallavi Cheguru, Anurima Majumder, Béatrice Bocquet, Audrey Sénéchal, Nikolai O. Artemyev, Christian P. Hamel, Philippe Brabet

published 23 Apr 2014

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Genetic Analysis of Genes Related to Tight Junction Function in the Korean Population with Non-Syndromic Hearing Loss

Min-A Kim, Ye-Ri Kim, Borum Sagong, Hyun-Ju Cho, Jae Woong Bae, Jeongho Kim, Jinwook Lee, Hong-Joon Park, Jae Young Choi, Kyu-Yup Lee, Un-Kyung Kim

published 21 Apr 2014

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Identification of Stim1 as a Candidate Gene for Exaggerated Sympathetic Response to Stress in the Stroke-Prone Spontaneously Hypertensive Rat

Mohammed Zubaerul Ferdaus, Bing Xiao, Hiroki Ohara, Kiyomitsu Nemoto, Yuji Harada, Kathrin Saar, Norbert Hübner, Minoru Isomura, Toru Nabika

published 15 Apr 2014

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Whole Exome Sequencing Identifies Recessive PKHD1 Mutations in a Chinese Twin Family with Caroli Disease

Xiwei Hao, Shiguo Liu, Qian Dong, Hong Zhang, Jing Zhao, Lin Su

published 07 Apr 2014

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Mutation Spectrum of Six Genes in Chinese Phenylketonuria Patients Obtained through Next-Generation Sequencing

Ying Gu, Kangmo Lu, Guanghui Yang, Zhong Cen, Li Yu, Lin Lin, Jing Hao, Zhigang Yang, Jiabao Peng, Shujian Cui, Jian Huang

published 04 Apr 2014

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Genetic Heterogeneity in a Large Cohort of Indian Type 3 von Willebrand Disease Patients

Priyanka Kasatkar, Shrimati Shetty, Kanjaksha Ghosh

published 27 Mar 2014

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Phenotypic Diversity of Breast Cancer-Related Mutations in Metalloproteinase-Disintegrin ADAM12

Yue Qi, Sara Duhachek-Muggy, Hui Li, Anna Zolkiewska

published 20 Mar 2014

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Molecular Genetics of FAM161A in North American Patients with Early-Onset Retinitis Pigmentosa

Giulia Venturini, Silvio Alessandro Di Gioia, Shyana Harper, Carol Weigel-DiFranco, Carlo Rivolta, Eliot L. Berson

published 20 Mar 2014

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Exome Sequencing Analysis Identifies Compound Heterozygous Mutation in ABCA4 in a Chinese Family with Stargardt Disease

Yu Zhou, Siyu Tao, Hui Chen, Lulin Huang, Xiong Zhu, Youping Li, Zhili Wang, He Lin, Fang Hao, Zhenglin Yang, Liya Wang, Xianjun Zhu

published 14 Mar 2014

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