Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN). [electronic resource]
Producer: 20160801Description: 738-48 p. digitalISSN:- 1468-6244
- Alleles
- Animals
- Bone Marrow Diseases -- genetics
- Child
- DNA Mutational Analysis
- Developmental Disabilities -- genetics
- Exoribonucleases -- genetics
- Female
- Genetic Testing
- Humans
- Infant
- Male
- Middle Aged
- Mutation, Missense
- Myelin Sheath -- genetics
- Sequence Deletion
- Telomere Homeostasis -- genetics
- Young Adult
- Zebrafish
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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