Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay. [electronic resource]
Producer: 20161011Description: 637-41 p. digitalISSN:- 1878-0849
- Adolescent
- Adult
- Age of Onset
- Amino Acid Sequence
- Child
- Child, Preschool
- Consanguinity
- DNA Mutational Analysis
- Developmental Disabilities -- diagnosis
- Female
- High-Throughput Nucleotide Sequencing
- Homozygote
- Humans
- Infant
- Liver Failure, Acute -- diagnosis
- Male
- Molecular Sequence Data
- Mutation
- Mutation, Missense
- Neoplasm Proteins -- chemistry
- Osteoporosis -- diagnosis
- Pedigree
- Phenotype
- Polymorphism, Single Nucleotide
- Sequence Alignment
- Siblings
- Young Adult
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
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