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Mutational analysis

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

Morad Ansari, Jacqueline Rainger, [ ... ], David R. FitzPatrick

Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity

Alberto Cruz-Bermúdez, Ramiro J. Vicente-Blanco, [ ... ], Miguel A. Fernández-Moreno

Analysis of PIK3CA Mutations and Activation Pathways in Triple Negative Breast Cancer

Paolo Cossu-Rocca, Sandra Orrù, [ ... ], Maria Rosaria De Miglio

Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing

Elisabete Hernández-Imaz, Yolanda Martín, [ ... ], Concepción Hernández-Chico

Calreticulin Mutations in Myeloproliferative Neoplasms: Comparison of Three Diagnostic Methods

Ji-Hye Park, Margaux Sevin, [ ... ], François Girodon

Did α-Synuclein and Glucocerebrosidase Coevolve? Implications for Parkinson’s Disease

James M. Gruschus

Structural Insight into and Mutational Analysis of Family 11 Xylanases: Implications for Mechanisms of Higher pH Catalytic Adaptation

Wenqin Bai, Cheng Zhou, [ ... ], Yanhe Ma

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

Extended RAS and BRAF Mutation Analysis Using Next-Generation Sequencing

Kazuko Sakai, Junji Tsurutani, [ ... ], Kazuto Nishio

Novel ENAM and LAMB3 Mutations in Chinese Families with Hypoplastic Amelogenesis Imperfecta

Xin Wang, Yuming Zhao, Yuan Yang, Man Qin

Mutational Analysis of Angiogenin Gene in Parkinson's Disease

Meng-Ling Chen, Ruey-Meei Wu, Chun-Hwei Tai, Chin-Hsien Lin

Associations of the BRAF^V600E Mutation with Sonographic Features and Clinicopathologic Characteristics in a Large Population with Conventional Papillary Thyroid Carcinoma

Ah Young Park, Eun Ju Son, [ ... ], Hang Seok Chang

Molecular Genetics of the Usher Syndrome in Lebanon: Identification of 11 Novel Protein Truncating Mutations by Whole Exome Sequencing

Ramesh Reddy, Somayyeh Fahiminiya, [ ... ], Rima Slim

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