Capo-Chichi, José-Mario <br/><br/>
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] 

 -  European journal of medical genetics  Dec 2015 
 - 637-41 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review 
<br/><br/><label>ISSN: </label>1878-0849 
<br/><br/><label>Standard No.: </label>10.1016/j.ejmg.2015.11.005  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Age of Onset<br/>Amino Acid Sequence<br/>Child<br/>Child, Preschool<br/>Consanguinity<br/>DNA Mutational Analysis<br/>Developmental Disabilities--diagnosis<br/>Female<br/>High-Throughput Nucleotide Sequencing<br/>Homozygote<br/>Humans<br/>Infant<br/>Liver Failure, Acute--diagnosis<br/>Male<br/>Molecular Sequence Data<br/>Mutation<br/>Mutation, Missense<br/>Neoplasm Proteins--chemistry<br/>Osteoporosis--diagnosis<br/>Pedigree<br/>Phenotype<br/>Polymorphism, Single Nucleotide<br/>Sequence Alignment<br/>Siblings<br/>Young Adult