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
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
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DOI：
10.1111/j.1365-2265.2011.04165.x
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发表时间：
2012-01
影响因子：
3.2
通讯作者：
H. Inoue;T. Mukai;Y. Sakamoto;C. Kimura;Natsumi Kangawa;M. Itakura;T. Ogata;Yoshiya Ito;K. Fujieda
中科院分区：
文献类型：
--
作者：
H. Inoue;T. Mukai;Y. Sakamoto;C. Kimura;Natsumi Kangawa;M. Itakura;T. Ogata;Yoshiya Ito;K. Fujieda
背景迄今为止，在不同种族背景的家族性和散发性联合垂体激素缺乏症（CPHD）患者中已发现约35种不同的POU 1F 1突变。大多数错义突变聚集在保守的POU-特异性和POU-同源结构域内，分别由外显子4和6编码。
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.