Identification and analysis of mutations in the Wilson disease gene (ATP7B): Population frequencies, genotype-phenotype correlation, and functional analyses

American Journal of Human Genetics

Volumn 61, Issue 2, 1997, Pages 317-328

  Shah, Anjali B ^a   Chernov, Igor ^a   Zhang, Hong Tao ^a   Ross, Barbara M ^a   Das, Kamna ^a   Lutsenko, Svetlana ^c   Parano, Enrico ^d,e   Pavone, Lorenzo ^d   Evgrafov, Oleg ^f   Ivanova Smolenskaya, Irina A ^g   Annerén, Göran ^h   Westermark, Kerstin ^h   Urrutia, Francisco Hevia ⁱ   Penchaszadeh, Graciela K ^a   Sternlieb, Irmin ^b   Scheinberg, I Herbert ^b   Gilliam, T Conrad ^a,j   Petrukhin, Konstantin ^a,k  

^a Columbia University ^*  (United States)

^b ST LUKE S ROOSEVELT HOSPITAL CENTER   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d UNIVERSITY OF CATANIA   (Italy)

^e CNR   (Italy)

^f RESEARCH CENTRE FOR MEDICAL GENETICS   (Russian Federation)

^g RESEARCH CENTER OF NEUROLOGY   (Russian Federation)

^h UPPSALA UNIVERSITY HOSPITAL   (Sweden)

ⁱ Hospital San Juan de Dios   (Costa Rica)

^j New York Presbyterian Columbia University Medical Center   (United States)

^k MERCK RESEARCH LABORATORIES   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; AMINO ACID; CERULOPLASMIN; COPPER; DNA; MESSENGER RNA; OLIGONUCLEOTIDE; RESTRICTION ENDONUCLEASE;

ARTICLE; ATOMIC ABSORPTION SPECTROMETRY; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; EXON; GENE; GENE MUTATION; GENOTYPE; HAPLOTYPE; HOMOZYGOTE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; SINGLE STRAND CONFORMATION POLYMORPHISM; WILSON DISEASE;

EID: 16944366995     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/514864     Document Type: Article

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