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

PLoS ONE

Volumn 8, Issue 3, 2013, Pages

  Kong, Xiao Fei ^a   Bousfiha, Aziz ^b   Rouissi, Abdelfettah ^c   Itan, Yuval ^a   Abhyankar, Avinash ^a   Bryant, Vanessa ^a   Okada, Satoshi ^a   Ailal, Fatima ^b   Bustamante, Jacinta ^d,e,f   Casanova, Jean Laurent ^a,d,f   Hirst, Jennifer ^g   Boisson Dupuis, Stéphanie ^a,d  

^a ROCKEFELLER UNIVERSITY   (United States)

^b HASSAN II UNIVERSITY   (Morocco)

^c Pédiatre du Secteur Libéral neurologie pédiatre ^*  (Morocco)

^d IMAGINE INSTITUTE   (France)

^e UNIVERSITÉ PARIS DESCARTES   (France)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

2 AMINO 4 PHOSPHONOBUTYRIC ACID; BCG VACCINE; COMPLEMENTARY DNA; GAMMA INTERFERON; GENOMIC DNA; INTERLEUKIN 2; MESSENGER RNA; ADAPTOR PROTEIN;

AP4E1 GENE; ARTICLE; AXILLARY LYMPH NODE; BIOPSY; CASE REPORT; CHILD; CONSANGUINITY; CONTROLLED STUDY; CYTOKINE PRODUCTION; DISEASE ASSOCIATION; DNA POLYMORPHISM; EXON; FEMALE; GENE; GENE DELETION; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IFNGR1 GENE; LYMPHADENITIS; MYCOBACTERIOSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PROTEIN STABILITY; SPASTIC PARAPLEGIA; STOP CODON; TWINS; ATYPICAL MYCOBACTERIOSIS; EXOME; GENETIC PREDISPOSITION; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOTE; MALE; METABOLISM; MOROCCO; MUTATION; PEDIGREE; PHYSIOLOGY; RECESSIVE GENE;

ADAPTOR PROTEIN COMPLEX 4; CONSANGUINITY; DISEASES IN TWINS; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; INTERFERON-GAMMA; MALE; MOROCCO; MUTATION; MYCOBACTERIUM INFECTIONS, NONTUBERCULOUS; PEDIGREE; PHENOTYPE; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84874629660     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0058286     Document Type: Article

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