Wooderchak-Donahue, Whitney L

Genome sequencing reveals a deep intronic splicing [electronic resource] - Journal of medical genetics 12 2018 - 824-830 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1468-6244

10.1136/jmedgenet-2018-105561 doi


Activin Receptors, Type II--genetics
Base Sequence
Case-Control Studies
Chromosome Mapping
Computational Biology--methods
Female
Genetic Association Studies--methods
Genetic Predisposition to Disease
Genomics--methods
High-Throughput Nucleotide Sequencing
Humans
Introns
Male
Multigene Family
Mutation
Pedigree
RNA Splicing
RNA, Untranslated
Sequence Analysis, DNA
Telangiectasia, Hereditary Hemorrhagic--diagnosis
Translocation, Genetic