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Splice site mutation
Genomic Analysis of Bone Marrow Failure and Myelodysplastic Syndromes Reveals Phenotypic and Diagnostic Complexity
Clinical Application of Whole-Genome Sequencing in Patients with Primary
In Silico Tools for Splicing Defect Prediction: a Survey from the Viewpoint of End Users
Genetic Features of Myelodysplastic Syndrome and Aplastic Anemia in Pediatric and Young Adult Patients
Spectrum of Splicing Errors Caused by CHRNE Mutations Affecting Introns and Intron/Exon Boundaries K Ohno, a Tsujino, X-M Shen, M Milone, a G Engel
Background Splicing and Genetic Disease
Tissue-And Condition-Specific Isoforms of Mammalian Cytochrome
Mitochondrial Genetics
A Mutational Analysis of Spliceosome Assembly: Evidence for Splice Site Collaboration During Spliceosome Formation
Expression of Alternative Oxidase in Drosophila Ameliorates Diverse Phenotypes Due to Cytochrome Oxidase Deficiency
Genomics of Inherited Bone Marrow Failure and Myelodysplasia Michael
The Ribose Methylation Enzyme FTSJ1 Has a Conserved Role in Neuron Morphology and Learning Performance
Diagnostic Interpretation of Genetic Studies in Patients with Primary
REVIEW Novel Mutations Associated with Combined Pituitary Hormone
Impaired Hematopoiesis and Leukemia Development in Mice with a Conditional Knock-In Allele of a Mutant Splicing Factor Gene U2af1
A Splice-Site Mutation in GABRG2 Associated with Childhood Absence Epilepsy and Febrile Convulsions
Spliceosomal Pre-Mrna Splicing Methods and Protocols M ETHODS in MOLECULAR BIOLOGY
Biology of the Mrna Splicing Machinery and Its Dysregulation in Cancer Providing Therapeutic Opportunities
Top View
Deletion of a Branch-Point Consensus Sequence in the LMX1B Gene Causes Exon Skipping in a Family with Nail Patella Syndrome
Investigating the Reversibility and Tissue Specificity of Mitochondrial Disorders
Human Thiopurine Methyltransferase Pharmacogenetics. Kindred with a Terminal Exon Splice Junction Mutation That Results in Loss of Activity
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The Emerging Role of GATA Transcription Factors in Development and Disease
Clinical and Genetic Studies in Paediatric Mitochondrial Disease
Splicing Mutations in Human Genetic Disorders: Examples, Detection, and Confirmation
Signature Redacted
Interpretation of Mrna Splicing Mutations in Genetic Disease
Regulaɵon of the Minor Spliceosome Through Alternaɵve Splicing And
Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy
Computational Identification of Regulatory Features Affecting
Information Analysis of Human Splice Site Mutations
U5 Snrna Interactions with Exons Ensure Splicing Precision 2 3 Olga V
Interpretation of Mrna Splicing Mutations in Genetic Disease: Review of the Literature and Guidelines for Information-Theoretical Analysis
Aberrant Splicing Regulation and Therapeutic Targets in Cancer
Computational Analysis of Cryptic Splice Sites
Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease