Allele dropout in PCR-based diagnosis of Wilson disease: Mechanisms and solutions

Clinical Chemistry

Volumn 52, Issue 3, 2006, Pages 517-520

  Lam, Ching Wan ^a   Mak, Chloe M ^a,b  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b QUEEN MARY HOSPITAL   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

COPPER; GENOMIC DNA;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD SAMPLING; CHINESE; CLINICAL ARTICLE; COPPER METABOLISM; DNA SEQUENCE; GENE MUTATION; HONG KONG; HUMAN; HUMAN GENOME; INBORN ERROR OF METABOLISM; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ALLELES; CATION TRANSPORT PROTEINS; HEPATOLENTICULAR DEGENERATION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 33644514003     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2005.060491     Document Type: Article

References (4)

1. Thomas GR, Forbes JR, Roberts EA, Waishe JM, Cox DW. The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet 1995;9:210-7.
2. Petrukhin K, Lutsenko S, Chernov I, Ross BM, Kaplan JH, Gilliam TC. Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions. Hum Mol Genet 1994;3:1647-56.
3. Wu ZY, Wang N, Lin MT, Fang L, Murong SX, Yu L. Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in Chinese patients with Wilson disease. Arch Neurol 2001;58:971-6.
4. Thomas GR, Roberts EA, Walshe JM, Cox DW. Haplotypes and mutations in Wilson disease. Am J Hum Genet 1995;56:1315-9.