Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease

Journal of Pediatric Gastroenterology and Nutrition

Volumn 58, Issue 5, 2014, Pages 561-568

  Okou, David T ^a   Mondal, Kajari ^a   Faubion, William A ^b   Kobrynski, Lisa J ^a   Denson, Lee A ^c   Mulle, Jennifer G ^a   Ramachandran, Dhanya ^a   Xiong, Yuning ^b   Svingen, Phyllis ^b   Patel, Viren ^a   Bose, Promita ^a   Waters, Jon P ^a   Prahalad, Sampath ^a   Cutler, David J ^a   Zwick, Michael E ^a   Kugathasan, Subra ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MAYO CLINIC   (United States)

^c CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

atypical; enteropathy; exome; immune dysregulation; inflammatory bowel disease; polyendocrinopathy; X linked

Indexed keywords

TRANSCRIPTION FACTOR FOXP3; FORKHEAD TRANSCRIPTION FACTOR; FOXP3 PROTEIN, HUMAN;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ADOLESCENT; ARTICLE; CELL ISOLATION; CELL PROLIFERATION; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ENTEROPATHY; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC VARIABILITY; GENOTYPE; HERITABILITY; HUMAN; IN VITRO STUDY; INDEL MUTATION; INFLAMMATORY BOWEL DISEASE; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; MIXED LYMPHOCYTE REACTION; PHENOTYPE; POLYENDOCRINOPATHY; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN STRUCTURE; QUALITY CONTROL; REGULATORY T LYMPHOCYTE; SINGLE NUCLEOTIDE POLYMORPHISM; WHOLE EXOME SEQUENCING; CASE REPORT; COMPLICATION; DNA SEQUENCE; ECZEMA; EXOME; FEMALE; GENETICS; IMMUNOLOGY; INFANT; MUTATION; PATHOLOGY; PEDIGREE; X CHROMOSOME LINKED DISORDER;

ECZEMA; EXOME; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENETIC DISEASES, X-LINKED; GENOTYPE; HUMANS; INFANT; INFLAMMATORY BOWEL DISEASES; MALE; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYENDOCRINOPATHIES, AUTOIMMUNE; SEQUENCE ANALYSIS, DNA; T-LYMPHOCYTES, REGULATORY;

EID: 84900303379     PISSN: 02772116     EISSN: 15364801     Source Type: Journal    
DOI: 10.1097/MPG.0000000000000302     Document Type: Article

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