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Mutation detection

High Frequency of Copy Number Variations and Sequence Variants at CYP21A2 Locus: Implication for the Genetic Diagnosis of 21-Hydroxylase Deficiency

Silvia Parajes, Celsa Quinteiro, Fernando Domínguez, Lourdes Loidi

BRCA1 and BRCA2 Germline Mutations in Malaysian Women with Early-Onset Breast Cancer without a Family History

Gaik Theng Toh, Peter Kang, [ ... ], Soo-Hwang Teo

Glucokinase Gene Mutations: Structural and Genotype-Phenotype Analyses in MODY Children from South Italy

Nadia Tinto, Adriana Zagari, [ ... ], Lucia Sacchetti

Mutation Analysis of BRAF, MEK1 and MEK2 in 15 Ovarian Cancer Cell Lines: Implications for Therapy

Anne L. Estep, Chana Palmer, Frank McCormick, Katherine A. Rauen

A Novel and Lethal De Novo LQT-3 Mutation in a Newborn with Distinct Molecular Pharmacology and Therapeutic Response

John R. Bankston, Minerva Yue, [ ... ], Robert S. Kass

Analysis of Mitochondrial DNA Sequences in Childhood Encephalomyopathies Reveals New Disease-Associated Variants

Aijaz A. Wani, Sajad H. Ahanger, [ ... ], Yogesh S. Shouche

High Throughput Genetic Analysis of Congenital Myasthenic Syndromes Using Resequencing Microarrays

Lisa Denning, Jennifer A. Anderson, [ ... ], Ricardo A. Maselli

Connector Inversion Probe Technology: A Powerful One-Primer Multiplex DNA Amplification System for Numerous Scientific Applications

Michael S. Akhras, Magnus Unemo, [ ... ], Nader Pourmand

Gain-of-Function R225W Mutation in Human AMPKγ₃ Causing Increased Glycogen and Decreased Triglyceride in Skeletal Muscle

Sheila R. Costford, Nihan Kavaslar, [ ... ], Mary-Ellen Harper

Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy

Andrew Orr, Marie-Pierre Dubé, [ ... ], Mark Samuels

Simple PCR Assays Improve the Sensitivity of HIV-1 Subtype B Drug Resistance Testing and Allow Linking of Resistance Mutations

Jeffrey A. Johnson, Jin-Fen Li, [ ... ], Walid Heneine

B-RAF and N-RAS Mutations Are Preserved during Short Time In Vitro Propagation and Differentially Impact Prognosis

Selma Ugurel, Ranjit K. Thirumaran, [ ... ], Dirk Schadendorf

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