Mutation analysis of ATP7B gene in Turkish Wilson disease patients: Identification of five novel mutations

European Journal of Medical Genetics

Volumn 56, Issue 4, 2013, Pages 175-179

  Simsek Papur, Ozlenen ^a   Akman, Sezin Asik ^b   Cakmur, Raif ^a   Terzioglu, Orhan ^a  

^a DOKUZ EYLUL UNIVERSITY   (Turkey)

^b MINISTRY OF HEALTH   (Turkey)

Author keywords

ATP7B; Copper; Mutation; Wilson disease

Indexed keywords

WILSON DISEASE PROTEIN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; INTRON; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PRESCHOOL CHILD; SCHOOL CHILD; SILENT MUTATION; SINGLE NUCLEOTIDE POLYMORPHISM; TURKEY (REPUBLIC); WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CATION TRANSPORT PROTEINS; CHILD; CHILD, PRESCHOOL; EXONS; FEMALE; GENETIC TESTING; HEPATOLENTICULAR DEGENERATION; HUMANS; MALE; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; TURKEY;

EID: 84875889916     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.01.003     Document Type: Article

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