Misdiagnosis revealed by genetic linkage analysis in a family with Wilson disease.
Vidaud
D
D
Laboratoire de Génétique Moléculaire, Faculté de Pharmacie Paris V, France.
Assouline
B
B
Lecoz
P
P
Cadranel
J F
JF
Chappuis
P
P
D000328:Adult; D002570:Ceruloplasmin / Q000032:analysis; D003300:Copper / Q000097:blood / Q000652:urine; D003951:Diagnostic Errors; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006239:Haplotypes; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction
D003300:Copper; D002570:Ceruloplasmin