Advertisement

Browse Subject Areas

?

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

For more information about PLOS Subject Areas, click here.

Mutation detection

Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families

Sundaramurthy Srilekha, Tharigopala Arokiasamy, [ ... ], Nagasamy Soumittra

Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A

Korcan Demir, Walaa E. Kattan, [ ... ], Yufei Shi

Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes

Daichi Shigemizu, Takeshi Aiba, [ ... ], Toshihiro Tanaka

Analytical Validation of AmpliChip p53 Research Test for Archival Human Ovarian FFPE Sections

Matthew J. Marton, Andrew R. McNamara, [ ... ], Jonathan Cheng

Identification of a Novel p.Q1772X ANK1 Mutation in a Korean Family with Hereditary Spherocytosis

Joo Hyung Han, Seung Kim, [ ... ], Ji Hyun Lee

Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets

Sara L. Ma, Virginia Vega-Warner, [ ... ], Edgar A. Otto

High-Density Dielectrophoretic Microwell Array for Detection, Capture, and Single-Cell Analysis of Rare Tumor Cells in Peripheral Blood

Atsushi Morimoto, Toshifumi Mogami, [ ... ], Yasuhiro Koh

Prevalence and Clinicopathological Characteristics of HER2 and BRAF Mutation in Chinese Patients with Lung Adenocarcinoma

Ling Shan, Tian Qiu, [ ... ], Jianming Ying

Rapid, Sensitive, and Accurate Evaluation of Drug Resistant Mutant (NS5A-Y93H) Strain Frequency in Genotype 1b HCV by Invader Assay

Satoshi Yoshimi, Hidenori Ochi, [ ... ], Kazuaki Chayama

JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome

Liting Li, Jibin Dong, [ ... ], Jianshe Wang

Validation of an Ion Torrent Sequencing Platform for the Detection of Gene Mutations in Biopsy Specimens from Patients with Non-Small-Cell Lung Cancer

Shiro Fujita, Katsuhiro Masago, [ ... ], Yukio Hirata

Sequence Polymorphism of Cytochrome b Gene in Theileria annulata Tunisian Isolates and Its Association with Buparvaquone Treatment Failure

Moez Mhadhbi, Melek Chaouch, [ ... ], Souha BenAbderrazak

Comprehensive Analysis of Disease-Related Genes in Chronic Lymphocytic Leukemia by Multiplex PCR-Based Next Generation Sequencing

Claudia Vollbrecht, Fabian Dominik Mairinger, [ ... ], Reinhard Buettner

Advertisement

Create a weekly email alert for: Mutation detection

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