A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the IPEX syndrome

Immunogenetics

Volumn 53, Issue 6, 2001, Pages 435-439

  Bennett, Craig L ^a   Brunkow, Mary E ^b   Ramsdell, Fred ^b   O’Briant, Kathy C ^a   Zhu, Qili ^a   Fuleihan, Ramsay L ^c   Shigeoka, Ann O ^d   Ochs, Hans D ^a   Chance, Phillip F ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b Celltech R and D Inc   (United States)

^c YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

FOXP3; IPEX; Polyadenylation; T cell activation

Indexed keywords

GENE PRODUCT; TRANSCRIPTION FACTOR FOXP3; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; ARTICLE; DNA POLYMORPHISM; ENDOCRINE DISEASE; ENTEROPATHY; GENETIC DISORDER; HUMAN; IMMUNE DEFICIENCY; IPEX SYNDROME; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION; POLYADENYLATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; X CHROMOSOMAL INHERITANCE;

EID: 0034812349     PISSN: 00937711     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002510100358     Document Type: Article

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