Simple and effective strategies for detection of allele dropout in PCR-based diagnosis of wilson disease [7]

Clinical Chemistry

Volumn 52, Issue 8, 2006, Pages 1611-1612

  Gupta, Arnab ^a   Nasipuri, Poonam ^a   Das, Shyamal K ^b   Ray, Kunal ^a  

^a INDIAN INSTITUTE OF CHEMICAL BIOLOGY   (India)

^b BANGUR INSTITUTE OF NEUROLOGY   (India)

Author keywords

[No Author keywords available]

Indexed keywords

DINUCLEOTIDE; PRIMER DNA;

ALLELE; ALLELE DROPOUT; ATP7B GENE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; DIAGNOSTIC VALUE; DINUCLEOTIDE REPEAT; EXON; FLUORESCENCE; GENE; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LETTER; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ALLELES; CATION TRANSPORT PROTEINS; GENETIC MARKERS; GENOTYPE; HEPATOLENTICULAR DEGENERATION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MUTATION; POLYMERASE CHAIN REACTION;

EID: 33746597401     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2006.069989     Document Type: Letter

References (4)

1. Lam CW, Mak CM. Allele dropout In PCR-based diagnosis of Wilson disease: mechanisms and solutions. Clin Chem 2006;52:517-20.
2. Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993;5:327-37.
3. Nanji MS, Nguyen VT, Kawasoe JH, Inui K, Endo F, Nakajima T, et al. Haplotype and mutation analysis in Japanese patients with Wilson disease. Am J Hum Genet 1997;60:1423-9.
4. Gupta A, Aikath D, Neogi R, Datta S, Basu K, Maity B, et al. Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations, and genotype-phenotype correlation in Indian patients. Hum Genet 2005;118: 49-57.