High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

Genetics in Medicine

Volumn 18, Issue 1, 2016, Pages 41-48

  Wassif, Christopher A ^a,b   Cross, Joanna L ^a,b   Iben, James ^a   Sanchez Pulido, Luis ^b   Cougnoux, Antony ^a   Platt, Frances M ^b   Ory, Daniel S ^c   Ponting, Chris P ^b   Bailey Wilson, Joan E ^d   Biesecker, Leslie G ^d   Porter, Forbes D ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

allele frequency; next generation sequence study; Niemann Pick disease; NPC; type C

Indexed keywords

LIPOFUSCIN; NPC1 PROTEIN; NPC2 PROTEIN; OXYSTEROL; PROTEIN; PROTEIN VARIANT; UNCLASSIFIED DRUG; 7-DEHYDROCHOLESTEROL REDUCTASE; CARRIER PROTEIN; GLYCOPROTEIN; MEMBRANE PROTEIN; NPC1 PROTEIN, HUMAN; NPC2 PROTEIN, HUMAN; OXIDOREDUCTASE;

ARTICLE; ATAXIA; BIOINFORMATICS; EXOME; GENE FREQUENCY; GENETIC VARIABILITY; HEPATOSPLENOMEGALY; HETEROZYGOTE; HUMAN; INCIDENCE; INDEL MUTATION; LUNG EMBOLISM; LYMPHADENOPATHY; MAJOR CLINICAL STUDY; NEXT GENERATION SEQUENCING; NIEMANN PICK DISEASE; PHENOTYPE; PREDICTION; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; ADOLESCENT; ADULT; CHEMISTRY; FEMALE; GENETIC ASSOCIATION STUDY; GENETIC SCREENING; GENETIC VARIATION; GENETICS; HIGH THROUGHPUT SEQUENCING; MALE; MOLECULAR MODEL; MUTATION; NIEMANN-PICK DISEASE, TYPE B; NIEMANN-PICK DISEASE, TYPE C; PREDICTIVE VALUE; PROTEIN SECONDARY STRUCTURE;

ADOLESCENT; ADULT; CARRIER PROTEINS; EXOME; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; GENETIC VARIATION; GLYCOPROTEINS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INCIDENCE; MALE; MEMBRANE GLYCOPROTEINS; MODELS, MOLECULAR; MUTATION; NIEMANN-PICK DISEASE, TYPE B; NIEMANN-PICK DISEASE, TYPE C; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PREDICTIVE VALUE OF TESTS; PROTEIN STRUCTURE, SECONDARY;

EID: 84954341816     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.25     Document Type: Article

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