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G-substrate gene promoter SNP (−1323T>C) modifies plasma total cholesterol and triglyceride phenotype in familial hypercholesterolemia: Intra-familial association study in an eight-generation hyperlipidemic kindred

✍ Scribed by Yukiko Nobe; Keiko Sato; Mitsuru Emi; Yoichi Ezura; Yuko Fujita; Daisuke Takada; Tomoaki Ishigami; Satoshi Umemura; Yunpei Xin; Lily L Wu; Stacey Larrinaga-Shum; Susan H Stephenson; Steven C Hunt; Paul N Hopkins

Book ID
109005069
Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
79 KB
Volume
4
Category
Article
ISSN
1444-1586

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Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: Intra-familial association study in an eight-generation hyperlipidemic kindred
✍ Takada, Daisuke ;Ezura, Yoichi ;Ono, Shuji ;Iino, Yasuhiko ;Katayama, Yasuo ;Xin 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 76 KB

## Abstract Defect of growth hormone receptor (GHR) is classically known to cause Laron syndrome, characterized by short stature, specific facial appearance, elevated serum growth hormone levels, and decreased insulin‐like growth factor I levels. In addition, an increased cardiovascular risk due to