Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: Impact on genetic testing

Human Genetics

Volumn 120, Issue 2, 2006, Pages 151-159

  Ferenci, Peter ^a  

^a UNIVERSITY OF VIENNA   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

WILSON DISEASE PROTEIN;

5' UNTRANSLATED REGION; ALLELE; ASIA; AUTOSOMAL RECESSIVE DISORDER; CHINA; COPPER METABOLISM; EUROPE; EXON; FAMILY; FAR EAST; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; JAPAN; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATION RATE; POINT MUTATION; PRIORITY JOURNAL; REVIEW; SOUTH KOREA; SOUTHERN EUROPE; SPAIN; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ASIA; CATION TRANSPORT PROTEINS; DNA MUTATIONAL ANALYSIS; EUROPE; GENE FREQUENCY; GENETIC SCREENING; GENETIC TESTING; HEPATOLENTICULAR DEGENERATION; HUMANS; MUTATION;

EID: 33747029284     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-006-0202-5     Document Type: Review

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