Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease [2]

Clinical Genetics

Volumn 72, Issue 3, 2007, Pages 264-267

  Barada, K ^a   Nemer, G ^b   Elhajj, I I ^a   Touma, J ^b   Cortas, N ^a   Boustany, R M ^a,b   Usta, Julnar ^b  

^a AMERICAN UNIVERSITY OF BEIRUT   (Lebanon)

^b Laboratory of Professor Loiselet   (Lebanon)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; COPPER; DNA; GLYCINE; PENICILLAMINE; WILSON DISEASE PROTEIN;

ADOLESCENT; AMINO ACID SUBSTITUTION; CHILD; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DIET THERAPY; DISEASE SEVERITY; DNA EXTRACTION; DNA SEQUENCE; EARLY DIAGNOSIS; EXON; GENE AMPLIFICATION; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEPATITIS; HOMOZYGOSITY; HUMAN; LEBANON; LETTER; LIVER CIRRHOSIS; LIVER DISEASE; MISSENSE MUTATION; ONSET AGE; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; CATION TRANSPORT PROTEINS; FEMALE; HEPATOLENTICULAR DEGENERATION; HOMOZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; PHENOTYPE;

EID: 34548138877     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00853.x     Document Type: Letter

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