Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT-1 gene in Japanese identical twins with mild combined pituitary hormone deficiency

Clinical Endocrinology

Volumn 76, Issue 1, 2012, Pages 78-87

  Inoue, Hiroshi ^a,b   Mukai, Tokuo ^c,e   Sakamoto, Yukiko ^b   Kimura, Chizuko ^b   Kangawa, Natsumi ^b   Itakura, Mitsuo ^b   Ogata, Tsutomu ^d   Ito, Yoshiya ^c,f   Fujieda, Kenji ^c  

^a Diabetes Therapeutics and Research Center   (Japan)

^b UNIVERSITY OF TOKUSHIMA   (Japan)

^c ASAHIKAWA MEDICAL COLLEGE   (Japan)

^d NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^e Asahikawa Kosei General Hospital   (Japan)

^f Department of Health Sciences   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

FOLLITROPIN; HYPOPHYSIS HORMONE; LUTEINIZING HORMONE; THYROTROPIN; TRANSCRIPTION FACTOR PIT 1;

ANIMAL CELL; ARTICLE; CELL INTERACTION; CHILD; CLINICAL FEATURE; COMBINED PITUITARY HORMONE DEFICIENCY; CONTROLLED STUDY; DNA BINDING; DONOR SITE; ELECTROPHORETIC MOBILITY; EXON; EXON SKIPPING; FAMILY ASSESSMENT; FEMALE; GENE ACTIVITY; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSFECTION; HETEROLOGOUS EXPRESSION; HETEROZYGOSITY; HORMONE DEFICIENCY; HUMAN; HUMAN CELL; HYPOPHYSIS CELL; IMMUNOFLUORESCENCE; IN VITRO STUDY; JAPANESE; MALE; MOLECULAR DIAGNOSIS; MONOZYGOTIC TWINS; MOTHER; NONHUMAN; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; RAT; RNA SPLICING; TRANSACTIVATION; WESTERN BLOTTING;

ADULT; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; CERCOPITHECUS AETHIOPS; CHILD, PRESCHOOL; COS CELLS; DNA; EXONS; FEMALE; HEK293 CELLS; HUMANS; INFANT; MALE; MUTATION; PITUITARY HORMONES; PROTEIN BINDING; PROTEIN TRANSPORT; RNA SPLICE SITES; TRANSCRIPTION FACTOR PIT-1; TWINS, MONOZYGOTIC;

EID: 83455179558     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2011.04165.x     Document Type: Article

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