Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 Novel mutations

Journal of Human Genetics

Volumn 53, Issue 8, 2008, Pages 681-687

  Abdelghaffar, Tawhida Y ^a,b   Elsayed, Solaf M ^a,b,c   Elsobky, Ezzat ^a,c   Bochow, Bettina ^d   Büttner, Janine ^d   Schmidt, Hartmut ^d  

^a AIN SHAMS UNIVERSITY   (Egypt)

^b Yassin Abdelghaffar Charity Center for Liver Disease and Research   (Egypt)

^c Medical Genetics Center   (Egypt)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

ATP7B; Egypt; Genetics; Mutation; Wilson disease

Indexed keywords

FLUORESCENT DYE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME; CLINICAL ARTICLE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; AMINO ACID SUBSTITUTION; CATION TRANSPORT PROTEINS; CHILD; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EGYPT; FEMALE; FRAMESHIFT MUTATION; GENOTYPE; HEPATOLENTICULAR DEGENERATION; HUMANS; MALE; MUTATION; PHENOTYPE; POINT MUTATION; SEQUENCE DELETION;

EID: 48549083098     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-008-0298-7     Document Type: Article

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