Article
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 - 1 Jan 2012
Inoue Hiroshi, Mukai Tokuo, Sakamoto Yukiko, Kimura Chizuko, Kangawa Natsumi, Itakura Mitsuo, Ogata Tsutomu, Ito Yoshiya, Fujieda Kenji
Abstract excerpt
CONTEXT: To date, approximately 35 different POU1F1 mutations have been described in patients with familial and sporadic combined pituitary hormone deficiency (CPHD) from different ethnic backgrounds. The majority are missense mutations clustered within the conserved POU-specific and POU-homeo domains, encoded by exons 4 and 6, respectively. OBJECTIVES: This study aimed to identify the molecular basis and...
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