Molecular pathogenesis of Wilson disease among Indians: A perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis

Cellular and Molecular Neurobiology

Volumn 27, Issue 8, 2007, Pages 1023-1033

  Gupta, Arnab ^a,c   Chattopadhyay, Ishita ^a   Dey, Sumit ^a   Nasipuri, Poonam ^a   Das, Shyamal K ^b   Gangopadhyay, Prasanta K ^b   Ray, Kunal ^a  

^a INDIAN INSTITUTE OF CHEMICAL BIOLOGY   (India)

^b BANGUR INSTITUTE OF NEUROLOGY   (India)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

ATP7B; K F ring; SNP; WD; Wilson Disease

Indexed keywords

COPPER; GENOMIC DNA; WILSON DISEASE PROTEIN;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONFERENCE PAPER; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DISEASE CARRIER; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENOME; HUMAN; INDIA; MAJOR CLINICAL STUDY; MOLECULAR DYNAMICS; MOLECULAR GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; AMINO ACID SEQUENCE; CATION TRANSPORT PROTEINS; DNA MUTATIONAL ANALYSIS; FAMILY; GENE FREQUENCY; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOTYPE; HEPATOLENTICULAR DEGENERATION; HUMANS; INDIA; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 38649084737     PISSN: 02724340     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10571-007-9192-7     Document Type: Conference Paper

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