A missense single-nucleotide polymorphism in the sialic acid acetylesterase (SIAE) gene is associated with anti-PIT-1 antibody syndrome

Endocrine Journal

Volumn 61, Issue 6, 2014, Pages 641-644

  Yamamoto, Masaaki ^a   Iguchi, Genzo ^a   Bando, Hironori ^a   Fukuoka, Hidenori ^a   Suda, Kentaro ^a   Takahashi, Michiko ^a   Nishizawa, Hitoshi ^a   Matsumoto, Ryusaku ^a   Tojo, Katsuyoshi ^b   Mokubo, Atsuko ^c   Ogata, Tsutomu ^d   Takahashi, Yutaka ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c Mokubo Clinic   (Japan)

^d HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Anti PIT 1 antibody syndrome; Autoimmune polygladular syndrome; PIT 1; SIAE; SNP

Indexed keywords

TRANSCRIPTION FACTOR PIT 1; ACETYLESTERASE; AUTOANTIBODY; SIALATE O-ACETYLESTERASE;

ADULT; ANTI TRANSCRIPTION FACTOR PIT 1 ANTIBODY SYNDROME; AUTOIMMUNE DISEASE; CASE REPORT; CONTROLLED STUDY; GENE; GENE FUNCTION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; MIDDLE AGED; MISSENSE MUTATION; NOTE; PATHOGENESIS; PREVALENCE; SIAE GENE; SINGLE NUCLEOTIDE POLYMORPHISM; AGED; AMINO ACID SUBSTITUTION; BLOOD; CASE CONTROL STUDY; GENETICS; HYPOPHYSIS DISEASE; IMMUNOLOGY; SYNDROME; VERY ELDERLY;

ACETYLESTERASE; AGED; AGED, 80 AND OVER; AMINO ACID SUBSTITUTION; AUTOANTIBODIES; AUTOIMMUNE DISEASES; CASE-CONTROL STUDIES; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PITUITARY DISEASES; POLYMORPHISM, SINGLE NUCLEOTIDE; SYNDROME; TRANSCRIPTION FACTOR PIT-1;

EID: 84903606996     PISSN: 09188959     EISSN: 13484540     Source Type: Journal    
DOI: 10.1507/endocrj.EJ13-0539     Document Type: Note

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