Genotype-phenotype correlation in Wilson disease

Journal of Clinical Gastroenterology

Volumn 44, Issue 6, 2010, Pages 387-388

  Horslen, Simon ^a   Hahn, Si Houn ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; CHROMOSOME 13Q; DNA POLYMORPHISM; EDITORIAL; GENOTYPE PHENOTYPE CORRELATION; LIVER DISEASE; MISSENSE MUTATION; PRIORITY JOURNAL; WILSON DISEASE; GENETICS; GENOTYPE; HUMAN; MENTAL DISEASE; MUTATION; PATHOPHYSIOLOGY; PHENOTYPE;

ADENOSINE TRIPHOSPHATASES; CATION TRANSPORT PROTEINS; GENOTYPE; HEPATOLENTICULAR DEGENERATION; HUMANS; LIVER DISEASES; MENTAL DISORDERS; MUTATION; PHENOTYPE;

ADENOSINE TRIPHOSPHATASE; CATION TRANSPORT PROTEIN; WILSON DISEASE PROTEIN;

EID: 77953806766     PISSN: 01920790     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCG.0b013e3181d96ac4     Document Type: Editorial

References (5)

1. Ferenci P, Caca K, Loudianos G, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int. 2003;23:139-142.
2. Barada K, El-Atrache M, El-Hajj II, et al. Homozygous mutations in the conserved ATP hinge region of the Wilson disease gene: association with liver disease J Clin Gastroenterol. 2010;44:432-439.
3. Coughlin CR II, Ficicioglu C. Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2010. [Epub ahead of print].
4. deWilde A, Sadilkova K, Sadilek M, et al. Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatographytandem mass spectrometry: application to newborn screening. Clin Chem. 2008;54:1961-1968.
5. Dipple KM, McCabe ER. Phenotypes of patients with ''simple'' Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am J Hum Genet. 2000;66:1729-1735.