A novel pathogenic nonsense triple-nucleotide mutation in the low-density lipoprotein receptor gene and its clinical correlation with familial hypercholesterolemia.

Genetic testing and molecular biomarkers

Volumn 15, Issue 9, 2011, Pages 601-606

  Ajmal, Muhammad ^a   Ahmed, Waqas ^b   Akhtar, Naveed ^b   Sadeque, Ahmed ^b   Khalid, Ayesha ^b   Benish Ali, Syeda Hafiza ^b   Ahmed, Nuzhat ^b   Azam, Maleeha ^b   Qamar, Raheel ^b  

^a COMSATS Institute of Information Technology ^*  (Pakistan)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR; NUCLEOTIDE;

ADULT; ARTICLE; CASE REPORT; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; HUMAN; MALE; MIDDLE AGED; PEDIGREE; PHYSIOLOGY; STOP CODON;

ADULT; CODON, NONSENSE; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; NUCLEOTIDES; PEDIGREE; POLYMORPHISM, GENETIC; RECEPTORS, LDL;

EID: 84864277914     PISSN: None     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2010.0184     Document Type: Article

References (0)