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Missense mutation

Two Novel Tyrosinase (TYR) Gene Mutations with Pathogenic Impact on Oculocutaneous Albinism Type 1 (OCA1)

Vadieh Ghodsinejad Kalahroudi, Behnam Kamalidehghan, [ ... ], Massoud Houshmand

In Silico Analysis of Missense Mutations in LPAR6 Reveals Abnormal Phospholipid Signaling Pathway Leading to Hypotrichosis

Syed Irfan Raza, Dost Muhammad, [ ... ], Sajid Rashid

Targeted High-Throughput Sequencing Identifies Pathogenic Mutations in KCNQ4 in Two Large Chinese Families with Autosomal Dominant Hearing Loss

Hongyang Wang, Yali Zhao, [ ... ], Qiuju Wang

Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness

Alice E. Davidson, Sek-Shir Cheong, [ ... ], Alison J. Hardcastle

PIK3CA and TP53 Gene Mutations in Human Breast Cancer Tumors Frequently Detected by Ion Torrent DNA Sequencing

Xusheng Bai, Enke Zhang, [ ... ], Jinglong Gao

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

Characterization of a New CDC73 Missense Mutation that Impairs Parafibromin Expression and Nucleolar Localization

Giulia Masi, Maurizio Iacobone, [ ... ], Luisa Barzon

ATP1A3 Mutations and Genotype-Phenotype Correlation of Alternating Hemiplegia of Childhood in Chinese Patients

Xiaoling Yang, Hua Gao, [ ... ], Yuehua Zhang

Mutations in the Homeodomain of HOXD13 Cause Syndactyly Type 1-c in Two Chinese Families

Limeng Dai, Dan Liu, [ ... ], Yun Bai

Rare Mutations of CACNB2 Found in Autism Spectrum Disease-Affected Families Alter Calcium Channel Function

Alexandra F. S. Breitenkamp, Jan Matthes, [ ... ], Stefan Herzig

Clinical, Molecular and Functional Investigation on an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD)

Zhan-Hui Zhang, Wei-Xia Lin, [ ... ], Yuan-Zong Song

BOR-Syndrome-Associated Eya1 Mutations Lead to Enhanced Proteasomal Degradation of Eya1 Protein

Amna Musharraf, Dagmar Kruspe, [ ... ], Kathrin Landgraf

Mutation Prevalence of Cerebral Cavernous Malformation Genes in Spanish Patients

Rufino Mondéjar, Francisca Solano, [ ... ], Miguel Lucas

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