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Nonsense mutation

Inherited MST1 Deficiency Underlies Susceptibility to EV-HPV Infections

Amandine Crequer, Capucine Picard, [ ... ], Emmanuelle Jouanguy

A Splice Site Mutation in Laminin-α2 Results in a Severe Muscular Dystrophy and Growth Abnormalities in Zebrafish

Vandana A. Gupta, Genri Kawahara, [ ... ], Alan H. Beggs

Expression of Wild-Type Rp1 Protein in Rp1 Knock-in Mice Rescues the Retinal Degeneration Phenotype

Qin Liu, Rob W. J. Collin, [ ... ], Eric A. Pierce

A Novel Nonsense Mutation of the GPR143 Gene Identified in a Chinese Pedigree with Ocular Albinism

Naihong Yan, Xuan Liao, [ ... ], Xuyang Liu

Functional and Structural Comparison of Pyrrolnitrin- and Iprodione-Induced Modifications in the Class III Histidine-Kinase Bos1 of Botrytis cinerea

Sabine Fillinger, Sakhr Ajouz, [ ... ], Marc Bardin

Prevalence and Clinical Features of Hearing Loss Patients with CDH23 Mutations: A Large Cohort Study

Maiko Miyagawa, Shin-ya Nishio, Shin-ichi Usami

Mutation Patterns of 16 Genes in Primary and Secondary Acute Myeloid Leukemia (AML) with Normal Cytogenetics

Marta Fernandez-Mercado, Bon Ham Yip, [ ... ], Jacqueline Boultwood

PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort

Yi-Chung Lee, Ming-Jen Lee, [ ... ], Bing-Wen Soong

Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants

Stefania Zampieri, Silvia Cattarossi, [ ... ], Andrea Dardis

Assessment of TP53 Mutations in Benign and Malignant Salivary Gland Neoplasms

Carolina Cavaliéri Gomes, Marina Gonçalves Diniz, [ ... ], Ricardo Santiago Gomez

Longitudinal Evaluation of the Hypothalamic-Pituitary-Testicular Function in 8 Boys with Adrenal Hypoplasia Congenita (AHC) Due to NR0B1 Mutations

Caroline Galeotti, Zineb Lahlou, [ ... ], Raja Brauner

Reversible Congenital Hypogonadotropic Hypogonadism in Patients with CHD7, FGFR1 or GNRHR Mutations

Eeva-Maria Laitinen, Johanna Tommiska, [ ... ], Taneli Raivio

Molecular Trajectories Leading to the Alternative Fates of Duplicate Genes

Michael Marotta, Helen Piontkivska, Hisashi Tanaka

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