Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance of PTC1-like domains in NPC1

Human Mutation

Volumn 22, Issue 4, 2003, Pages 313-325

  Park, Walter D ^a   O'Brien, John F ^a   Lundquist, Patrick A ^a   Kraft, Daniel L ^a   Vockley, Cate Walsh ^a   Karnes, Pamela S ^a   Patterson, Marc C ^b   Snow, Karen ^a  

^a MAYO CLINIC   (United States)

^b Howard Hughes Medical Institute   (United States)

Author keywords

CSGE; HE1; Mutation analysis; Niemann Pick Type C; NPC1; NPC1 detection algorithm; NPC2

Indexed keywords

AMINO ACID; CHOLESTEROL; GENE PRODUCT; GLYCOLIPID; PROTEIN HE1; PROTEIN NPC1; PROTEIN NPC2; PROTEIN PATCHED 1; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; BIOCHEMISTRY; DISEASE SEVERITY; DNA SEQUENCE; GEL ELECTROPHORESIS; GENE MUTATION; GENETIC COMPLEMENTATION; HUMAN; HUMAN CELL; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NIEMANN PICK DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN DOMAIN; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; UNITED STATES;

BASE SEQUENCE; CARRIER PROTEINS; CELL LINE; CHOLESTEROL ESTERS; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENETIC COMPLEMENTATION TEST; GENETIC SCREENING; GENOTYPE; GLYCOPROTEINS; HUMANS; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NIEMANN-PICK DISEASES; ONCOGENE PROTEINS; PHENOTYPE; POLYMORPHISM, GENETIC; PROTEIN STRUCTURE, TERTIARY;

EID: 0141753992     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10255     Document Type: Article

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