MUTATIONS IN THE PIT-1 GENE IN CHILDREN WITH COMBINED PITUITARY-HORMONE DEFICIENCY

被引：139

作者：

OHTA, K

NOBUKUNI, Y

MITSUBUCHI, H

FUJIMOTO, S

MATSUO, N

INAGAKI, H

ENDO, F

MATSUDA, I

机构：

[1] KUMAMOTO UNIV,SCH MED,DEPT PEDIAT,HONJO 1-1-1,KUMAMOTO 860,JAPAN

[2] MIYAKONOJO NATL HOSP,DEPT PEDIAT,MIYAKONOJO,JAPAN

[3] INAGAKI PEDIAT CLIN,NAGOYA,JAPAN

[4] KEIO UNIV,SCH MED,DEPT PEDIAT,SHINJUKU KU,TOKYO 108,JAPAN

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 1992年 / 189卷 / 02期

关键词：

D O I：

10.1016/0006-291X(92)92281-2

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Pit-1 is a pituitary-specific transcription factor that binds to and transactivates promoters of growth hormone and prolactin genes. In three unrelated Japanese children with combined pituitary hormone deficiency, we identified three point mutations in the Pit-1 gene, Pro24Leu, Arg143Gln, and Arg271Trp, located on the major transactivation region, POU-specific domain, and POU-homeodomain, respectively. © 1992.

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页码：851 / 855

页数：5

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