Advertisement

Browse Subject Areas

?

Click through the PLOS taxonomy to find articles in your field.

For more information about PLOS Subject Areas, click here.

Missense mutation

R54C Mutation of NOTCH3 Gene in the First Rungus Family with CADASIL

Kheng-Seang Lim, Ai-Huey Tan, Chun-Shen Lim, Kek-Heng Chua, Ping-Chin Lee, Norlisah Ramli, Giri Shan Rajahram, Fatimah Tina Hussin, Kum-Thong Wong, Meenakshi B. Bhattacharjee, Ching-Ching Ng

published 13 Aug 2015

Loading metrics information...

Metrics unavailable. Please check back later.

A Novel Mutation of DAX-1 Associated with Secretory Azoospermia

Lisha Mou, Nie Xie, Lihua Yang, Yuchen Liu, Ruiying Diao, Zhiming Cai, Honggang Li, Yaoting Gui

published 24 Jul 2015

Loading metrics information...

Metrics unavailable. Please check back later.

Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia

Ferdos Alaa el Din, Sylvie Patri, Vincent Thoreau, Montserrat Rodriguez-Ballesteros, Eva Hamade, Sabine Bailly, Brigitte Gilbert-Dussardier, Raghida Abou Merhi, Alain Kitzis

published 15 Jul 2015

Loading metrics information...

Metrics unavailable. Please check back later.

Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss

Fei Liu, Jiongjiong Hu, Wenjun Xia, Lili Hao, Jing Ma, Duan Ma, Zhaoxin Ma

published 11 May 2015

Loading metrics information...

Metrics unavailable. Please check back later.

Compound Heterozygous Mutation of Rag1 Leading to Omenn Syndrome

Adam G. W. Matthews, Christine E. Briggs, Keiichi Yamanaka, Trudy N. Small, Jana L. Mooster, Francisco A. Bonilla, Marjorie A. Oettinger, Manish J. Butte

published 07 Apr 2015

Loading metrics information...

Metrics unavailable. Please check back later.

Proxy Molecular Diagnosis from Whole-Exome Sequencing Reveals Papillon-Lefevre Syndrome Caused by a Missense Mutation in CTSC

A. Mesut Erzurumluoglu, Muslim M. Alsaadi, Santiago Rodriguez, Tahani S. Alotaibi, Philip A. I. Guthrie, Sian Lewis, Aasiya Ginwalla, Tom R. Gaunt, Khalid K. Alharbi, Fahad M. Alsaif, Basma M. Alsaadi, Ian N. M. Day

published 23 Mar 2015

Loading metrics information...

Metrics unavailable. Please check back later.

Ocular Signs Correlate Well with Disease Severity and Genotype in Fabry Disease

Susanne Pitz, Gisela Kalkum, Laila Arash, Nesrin Karabul, Andrea Sodi, Sylvain Larroque, Michael Beck, Andreas Gal

published 17 Mar 2015

Loading metrics information...

Metrics unavailable. Please check back later.

Crystal and EM Structures of Human Phosphoribosyl Pyrophosphate Synthase I (PRS1) Provide Novel Insights into the Disease-Associated Mutations

Peng Chen, Zheng Liu, Xuejuan Wang, Junhui Peng, Qianqian Sun, Jianzhong Li, Mingxing Wang, Liwen Niu, Zhiyong Zhang, Gang Cai, Maikun Teng, Xu Li

published 17 Mar 2015

Loading metrics information...

Metrics unavailable. Please check back later.

Low Prevalence of CHEK2 Gene Mutations in Multiethnic Cohorts of Breast Cancer Patients in Malaysia

Suriati Mohamad, Nurismah Md Isa, Rohaizak Muhammad, Nor Aina Emran, Nor Mayah Kitan, Peter Kang, In Nee Kang, Nur Aishah Mohd Taib, Soo Hwang Teo, Sharifah Noor Akmal

published 28 Jan 2015

Loading metrics information...

Metrics unavailable. Please check back later.

Identification of Two Missense Mutations of ERCC6 in Three Chinese Sisters with Cockayne Syndrome by Whole Exome Sequencing

Shanshan Yu, Liyuan Chen, Lili Ye, Lingna Fei, Wei Tang, Yujiao Tian, Qian Geng, Xin Yi, Jiansheng Xie

published 02 Dec 2014

Loading metrics information...

Metrics unavailable. Please check back later.

Resequencing and Association Analysis of PTPRA, a Possible Susceptibility Gene for Schizophrenia and Autism Spectrum Disorders

Jingrui Xing, Chenyao Wang, Hiroki Kimura, Yuto Takasaki, Shohko Kunimoto, Akira Yoshimi, Yukako Nakamura, Takayoshi Koide, Masahiro Banno, Itaru Kushima, Yota Uno, Takashi Okada, Branko Aleksic, Masashi Ikeda, Nakao Iwata, Norio Ozaki

published 13 Nov 2014

Loading metrics information...

Metrics unavailable. Please check back later.

Rational Design of Small-Molecule Stabilizers of Spermine Synthase Dimer by Virtual Screening and Free Energy-Based Approach

Zhe Zhang, Virginie Martiny, David Lagorce, Yoshihiko Ikeguchi, Emil Alexov, Maria A. Miteva

published 23 Oct 2014

Loading metrics information...

Metrics unavailable. Please check back later.

New Starch Phenotypes Produced by TILLING in Barley

Francesca Sparla, Giuseppe Falini, Ermelinda Botticella, Claudia Pirone, Valentina Talamè, Riccardo Bovina, Silvio Salvi, Roberto Tuberosa, Francesco Sestili, Paolo Trost

published 01 Oct 2014

Loading metrics information...

Metrics unavailable. Please check back later.

Advertisement

Create a weekly email alert for: Missense mutation

You can change these options by clicking profile then "Alerts and Notifications"