A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease

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A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease

Authors
Type
Published Article
Volume
8
Issue
3
Identifiers
DOI: 10.1371/journal.pone.0058286
Source
USPC - SET - SVS
Keywords
  • Molecular Genetics
  • Biology
  • Pathology
  • Medicine
  • Genomics
  • Infectious Diseases
  • Genetics
  • Neurology
  • Genetic Testing
  • Cerebral Palsy
  • Clinical Pathology
  • Heredity
  • Research Article
  • Clinical Genetics
  • Bacterial Diseases
  • Genome Sequencing
  • Autosomal Recessive
  • Mycobacterium
  • Diagnostic Medicine

Abstract

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