Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.

Human mutation

Volumn 23, Issue 4, 2004, Pages 398-

  Deguti, Marta M ^a   Genschel, Janine ^a   Cancado, Eduardo L R ^a   Barbosa, Egberto R ^a   Bochow, Bettina ^a   Mucenic, Marcos ^a   Porta, Gilda ^a   Lochs, Herbert ^a   Carrilho, Flair J ^a   Schmidt, Hartmut H J ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; CATION TRANSPORT PROTEIN; WILSON DISEASE PROTEIN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; BRAZIL; CHILD; FEMALE; GENETICS; GENOTYPE; HAPLOTYPE; HUMAN; MALE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA SPLICING; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; ALLELES; BRAZIL; CATION TRANSPORT PROTEINS; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HAPLOTYPES; HEPATOLENTICULAR DEGENERATION; HUMANS; MALE; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RNA SPLICING;

EID: 2342620218     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9227     Document Type: Article

References (0)