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Mutation detection

X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients

Cyntia Anabel Amorosi, Helena Myskóva, [ ... ], Ana María Oller de Ramírez

High-Throughput Mutation Profiling of Primary and Metastatic Endometrial Cancers Identifies KRAS, FGFR2 and PIK3CA to Be Frequently Mutated

Camilla Krakstad, Even Birkeland, [ ... ], Helga Salvesen

Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges

Kerstin Knies, Beatrice Schuster, [ ... ], Detlev Schindler

Mutation Scanning Using MUT-MAP, a High-Throughput, Microfluidic Chip-Based, Multi-Analyte Panel

Rajesh Patel, Alison Tsan, [ ... ], Rajiv Raja

A Novel SERPINA1 Mutation Causing Serum Alpha₁-Antitrypsin Deficiency

Darren N. Saunders, Elizabeth A. Tindall, [ ... ], Vanessa M. Hayes

Mutation in Parkinson Disease-Associated, G-Protein-Coupled Receptor 37 (GPR37/PaelR) Is Related to Autism Spectrum Disorder

Eriko Fujita-Jimbo, Zhi-Ling Yu, [ ... ], Mariko Y. Momoi

A Novel Melanocortin-4 Receptor Mutation MC4R-P272L Associated with Severe Obesity Has Increased Propensity To Be Ubiquitinated in the ER in the Face of Correct Folding

Susana Granell, Clara Serra-Juhé, [ ... ], Jesús Argente

High DNA Methyltransferase DNMT3B Levels: A Poor Prognostic Marker in Acute Myeloid Leukemia

Sandrine Hayette, Xavier Thomas, [ ... ], Mauricette Michallet

Non-Invasive Prenatal Diagnosis of Multiple Endocrine Neoplasia Type 2A Using COLD-PCR Combined with HRM Genotyping Analysis from Maternal Serum

Hada C. Macher, Maria A. Martinez-Broca, [ ... ], Juan M. Guerrero

Enrichment of Mutations in Multiple DNA Sequences Using COLD-PCR in Emulsion

Elena Castellanos-Rizaldos, Coren Audrey Milbury, G. Mike Makrigiorgos

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

Oscar Diaz-Horta, Duygu Duman, [ ... ], Mustafa Tekin

Two Novel Mutations on Exon 8 and Intron 65 of COL7A1 Gene in Two Chinese Brothers Result in Recessive Dystrophic Epidermolysis Bullosa

Ying Lin, Xue-Jun Chen, [ ... ], Zheng-Lin Yang

Exome Analysis Identified a Novel Mutation in the RBP4 Gene in a Consanguineous Pedigree with Retinal Dystrophy and Developmental Abnormalities

Catherine Cukras, Terry Gaasterland, [ ... ], Radha Ayyagari

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