Two novel mutations 685del 1 and D129G in the low-density lipoprotein receptor gene in a compound heterozygote Chinese family with familial hypercholesterolemia
- Author
- KANG CHEN1 ; MU, Yi-Ming1 ; WANG, Bao-An1 ; GUO, Qing-Hua1 ; LU, Zhao-Hui1 ; DOU, Jing-Tao1 ; LU, Ju-Ming1
[1] Department of Endocrinology, Chinese PLA General Hospital, Beijing 100853, China - Source
Metabolism, clinical and experimental. 2007, Vol 56, Num 5, pp 636-640, 5 p ; ref : 19 ref
- ISSN
- 0026-0495
- Scientific domain
- Endocrinology; Nutrition, obesity, metabolic disorders
- Publisher
- Elsevier, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Asiatique Chinois Cholestérol Etude familiale Gène Génétique Hypercholestérolémie Hétérozygotie Lipide Lipoprotéine LDL Maladie héréditaire Milieu familial Mutation Chine Dyslipémie Hyperlipoprotéinémie Métabolisme pathologie Asie
- Keyword (en)
- Asiatic Chinese Cholesterol Family study Gene Genetics Hypercholesterolemia Heterozygosity Lipids Lipoprotein LDL Genetic disease Family environment Mutation China Dyslipemia Hyperlipoproteinemia Metabolic diseases Asia
- Keyword (es)
- Asiático Chino Colesterol Estudio familiar Gen Genética Hipercolesterolemia Heterozigosis Lípido Lipoproteína LDL Enfermedad hereditaria Medio familiar Mutación China Dislipemia Hiperlipoproteinemia Metabolismo patología Asia
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22A Disorders of blood lipids. Hyperlipoproteinemia
- Discipline
- Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 18724630
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1016/j.metabol.2006.12.011 
https://dx.doi.org/10.1016/j.metabol.2006.12.011
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