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Mutation

A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1

Irene Johnsrud, Mari Ann Kulseth, [ ... ], Ketil Heimdal

Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array

Mayuko Tamura, Tsuyoshi Isojima, [ ... ], Sachiko Kitanaka

Occult Hepatitis B Virus Infection in Nigerian Blood Donors and Hepatitis B Virus Transmission Risks

Opaleye O. Oluyinka, Hoang Van Tong, [ ... ], Thirumalaisamy P. Velavan

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

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

A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family

Xiaotong Zhuang, Lianqing Wang, Zixun Song, Wei Xiao

Hansenula polymorpha Pmt4p Plays Critical Roles in O-Mannosylation of Surface Membrane Proteins and Participates in Heteromeric Complex Formation

Hyunah Kim, Eun Jung Thak, [ ... ], Hyun Ah Kang

Genetic Basis and Functional Consequences of Differential Expression of the CmeABC Efflux Pump in Campylobacter jejuni Isolates

Tara Grinnage-Pulley, Qijing Zhang

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

Genetic Analysis of T Cell Lymphomas in Carbon Ion-Irradiated Mice Reveals Frequent Interstitial Chromosome Deletions: Implications for Second Cancer Induction in Normal Tissues during Carbon Ion Radiotherapy

Benjamin J. Blyth, Shizuko Kakinuma, [ ... ], Yoshiya Shimada

Emergence of Ciprofloxacin-Resistant Salmonella enterica Serovar Typhi in Italy

Aurora García-Fernández, Silvia Gallina, [ ... ], Ida Luzzi

Novel Functions and Regulation of Cryptic Cellobiose Operons in Escherichia coli

Vinuselvi Parisutham, Sung Kuk Lee

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