Genotype phenotype correlation in Wilson's disease within families - A report on four south Indian families

World Journal of Gastroenterology

Volumn 14, Issue 29, 2008, Pages 4672-4676

  Santhosh, S ^a   Shaji, R V ^a   Eapen, C E ^a   Jayanthi, V ^b   Malathi, S ^c   Finny, P ^a   Thomas, N ^a   Kurian, G ^a   Chandy, G M ^a  

^a CHRISTIAN MEDICAL COLLEGE   (India)

^b STANLEY MEDICAL COLLEGE   (India)

^c Institute of Child Health   (India)

Author keywords

Genotype phenotype correlation; Wilson's disease

Indexed keywords

ARGININE; CERULOPLASMIN; COPPER; DNA; GLYCINE; LEUCINE; LYSINE; PHENYLALANINE; WILSON DISEASE PROTEIN; ADENOSINE TRIPHOSPHATASE; CATION TRANSPORT PROTEIN;

ADOLESCENT; ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DNA EXTRACTION; DNA FLANKING REGION; EXON; FAMILY STUDY; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INDIA; INTRON; MALE; MUTATIONAL ANALYSIS; ONSET AGE; POLYMERASE CHAIN REACTION; SCHOOL CHILD; URINE LEVEL; WILSON DISEASE; CHILD; ETHNOLOGY; GENETICS; GENOTYPE; HOMOZYGOTE; MIDDLE AGED; MUTATION; PHENOTYPE;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ALLELES; CATION TRANSPORT PROTEINS; CHILD; FEMALE; GENOTYPE; HEPATOLENTICULAR DEGENERATION; HOMOZYGOTE; HUMANS; INDIA; MALE; MIDDLE AGED; MUTATION; PHENOTYPE;

EID: 58149180259     PISSN: 10079327     EISSN: None     Source Type: Journal    
DOI: 10.3748/wjg.14.4672     Document Type: Article

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