The other mutation is found: Follow-up of an exceptional family with Wilson disease [6]

American Journal of Gastroenterology

Volumn 99, Issue 12, 2004, Pages 2504-2505

  Firneisz, Gabor ^a   Szonyi, Laszlo ^a   Ferenci, Peter ^a   Willheim, Claudia ^a   Horvath, Andrea ^a   Folhoffer, Aniko ^a   Tulassay, Zsolt ^a   Szalay, Ferenc ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

PENICILLAMINE;

CHELATION THERAPY; COPPER METABOLISM; FAMILY; FOLLOW UP; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; LETTER; LIVER TRANSPLANTATION; MISSENSE MUTATION; NEUROLOGIC DISEASE; PRIORITY JOURNAL; SIDE EFFECT; WILSON DISEASE;

HEPATOLENTICULAR DEGENERATION; HUMANS; MUTATION, MISSENSE; PEDIGREE;

EID: 11144294123     PISSN: 00029270     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1572-0241.2004.41389_8.x     Document Type: Letter

References (5)

1. Firneisz G, Szonyi L, Ferenci P, et al. Wilson disease in two consecutive generations: An exceptional family. Am J Gastroenterol 2001;96:2269-71.
2. http://www.uofa-medical-genetics.org/wilson/index.php, curators: Kenney S, Cox DW. Last updated February 14, 2002, last accessed June 29, 2004.
3. Firneisz G, Lakatos PL, Szalay F, et al. Common mutations of ATP7B in Wilson disease patients from Hungary. Am J Med Genet 2002;108:23-8.
4. Roberts EA, Schilsky ML. A practice guideline on Wilson disease Hepatology 2003;37:1475-92.
5. Ferenci P, Caca K, Loudianos G, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003;23:139-42.