Niemann-Pick C disease: Use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families

Molecular Genetics and Metabolism

Volumn 86, Issue 1-2, 2005, Pages 220-232

  Millat, Gilles ^a   Baïlo, Nathalie ^a   Molinero, Sabine ^a   Rodriguez, Céline ^a   Chikh, Karim ^a   Vanier, Marie T ^a  

^a CENTRE HOSPITALIER LYON SUD   (France)

Author keywords

Denaturing high performance liquid chromatography; DHPLC; Mutation detection; Niemann Pick disease; NPC1; NPC2

Indexed keywords

LIPID; NIEMANN PICK C1 LIPID; NIEMANN PICK C2 LIPID; UNCLASSIFIED DRUG;

ACCURACY; ADOLESCENT; ALLELE; ANALYTIC METHOD; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EXON; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE DETECTION; HUMAN; NIEMANN PICK DISEASE; PRIORITY JOURNAL; RELIABILITY; VALIDATION PROCESS;

BASE SEQUENCE; CARRIER PROTEINS; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA PRIMERS; GENOTYPE; GLYCOPROTEINS; HUMANS; MEMBRANE GLYCOPROTEINS; NIEMANN-PICK DISEASES; NUCLEIC ACID DENATURATION; PHENOTYPE; REPRODUCIBILITY OF RESULTS; VARIATION (GENETICS);

EID: 26244438721     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.07.007     Document Type: Article

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