Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. [electronic resource]
Producer: 20120807Description: 470-8 p. digitalISSN:- 1399-0004
- Amino Acid Sequence
- Amino Acid Substitution
- Base Sequence
- Cell Line
- Child, Preschool
- Dyskeratosis Congenita -- diagnosis
- Fatal Outcome
- Female
- Gene Expression
- Gene Order
- Humans
- Infant
- Male
- Molecular Sequence Data
- Mutation
- Phenotype
- Protein Binding
- Telomere Shortening
- Telomere-Binding Proteins -- genetics
- Telomeric Repeat Binding Protein 1 -- metabolism
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Publication Type: Case Reports; Journal Article
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