[A gene analysis of the low density lipoprotein receptor in Chinese with homozygous familial hyperchol-esterolemia]

[A gene analysis of the low density lipoprotein receptor in Chinese with homozygous familial hyperchol-esterolemia] Research Abstract Details 

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[A gene analysis of the low density lipoprotein receptor in Chinese with homozygous familial hyperchol-esterolemia] Abstract Text:

D Wang,Y Li,Y Mu,Q Gao,W Heng,H Zhong,J Wang,

OBJECTIVE: To investigate low density lipoprotein receptor(LDLR) gene mutations in Chinese with familial hyperchol-esterolemia(FH). METHODS: Genomic DNA was extracted from five unrelated children with clinical diagnosis of homozygous FH, together with their family members. Promoter and all of the 18 exons of LDLR gene were amplified by polymerase chain reaction (PCR) and were analyzed by single strand conformation polymorphism (SSCP). The PCR products of abnormal patterns shown by SSCP were sequenced directly. RESULTS: Two point mutations (A606T, C263R) were found in two families respectively. The two mutations were only found in China, and C263R is a novel mutation. CONCLUSION: The two mutations of LDLR gene are the cause of FH and there may be LDLR gene mutations only carried by FH patients in China.

[A gene analysis of the low density lipoprotein receptor in Chinese with homozygous familial hyperchol-esterolemia] Publishing Authors By Initials

D Wang,Y Li,Y Mu,Q Gao,W Heng,H Zhong,J Wang,

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[A gene analysis of the low density lipoprotein receptor in Chinese with homozygous familial hyperchol-esterolemia] Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yix

VOLUME: 18

Page Numbers: 279-82

Journal Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Z

ISSN: 1003-9406

DAY: 2

MONTH: Aug

YEAR: 2001

[A gene analysis of the low density lipoprotein receptor in Chinese with homozygous familial hyperchol-esterolemia] Information

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LANGUAGE: chi

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AFFILIATION: Department of Pathology, Medical Health Center, Peking University, Beijing 100083 P.R.China. dqw21@yahoo.com.cn

Country: China

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MEDLINETA: Zhonghua Yi Xue Yi Chuan Xue Z

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