Deletion Hotspot in the Argininosuccinate Lyase Gene : Association With Topoisomerase II and DNA Polymerase α Sites
Evidence for Adaptive Selection Acting on the tRNA and rRNA Genes of Human Mitochondrial DNA
Spectrum of HSPG2 (Perlecan) Mutations in Patients With Schwartz-Jampel Syndrome
Phenotypic Heterogeneity in the XPB DNA Helicase Gene ( ERCC3 ) : Xeroderma Pigmentosum Without and With Cockayne Syndrome
NF1 Mutation Rather Than Individual Genetic Variability Is the Main Determinant of the NF1 -Transcriptional Profile of Mutations Affecting Splicing
Long Contiguous Stretches of Homozygosity in the Human Genome
Population-Based Estimates of Breast Cancer Risks Associated With ATM Gene Variants c.7271T > G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry
SNPSplicer : Systematic Analysis of SNP-Dependent Splicing in Genotyped cDNAs
A Recessive Mendelian Model to Predict Carrier Probabilities of DFNB1 for Nonsyndromic Deafness
Testing and Improving Experimental Parameters for the Use of Low Molecular Weight Targets in Array-CGH Experiments
MUT-TP53 : A Versatile Matrix for TP53 Mutation Verification and Publication
Long-Range PCR Facilitates the Identification of PMS2-Specific Mutations
High Efficiency of Mutation Detection in Type 1 Stickler Syndrome Using a Two-Stage Approach : Vitreoretinal Assessment Coupled With Exon Sequencing for Screening COL2A1
Recessive Arrhythmogenic Right Ventricular Dysplasia Due to Novel Cryptic Splice Mutation in PKP2
Identification of Novel Mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger Spectrum Patients
A New Genetic Isolate With a Unique Phenotype of Syndromic Oculocutaneous Albinism : Clinical, Molecular, and Cellular Characteristics
Deficient Membrane Integration of the Novel p.N14D- GJB2 Mutant Associated With Non-Syndromic Hearing Impairment
Identification of Novel Mutations in the Human Ornithine Transcarbamylase ( OTC ) Gene of Korean Patients With OTC Deficiency and Transient Expression of the Mutant Proteins In Vitro
Red Cell Glucose Phosphate Isomerase (GPI) : A Molecular Study of Three Novel Mutations Associated With Hereditary Nonspherocytic Hemolytic Anemia
Determination of the Mutation Spectrum of the EXT1/EXT2 Genes in British Caucasian Patients With Multiple Osteochondromas, and Exclusion of Six Candidate Genes in EXT Negative Cases
Molecular Bases of Antithrombin Deficiency : Twenty-two Novel Mutations in the Antithrombin Gene