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Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.
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Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.
Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. Clin Genet. 2012 May; 81(5):470-8.
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PubMed
subject areas
Amino Acid Sequence
Amino Acid Substitution
Base Sequence
Cell Line
Child, Preschool
Dyskeratosis Congenita
Fatal Outcome
Female
Gene Expression
Gene Order
Humans
Infant
Male
Molecular Sequence Data
Mutation
Phenotype
Protein Binding
Telomere Shortening
Telomere-Binding Proteins
Telomeric Repeat Binding Protein 1
authors with profiles
ALISON BERTUCH