TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping

Journal of Inherited Metabolic Disease

Volumn 29, Issue 5, 2006, Pages 620-626

  Maydan, G ^a   Andresen, B S ^b   Madsen, P P ^b   Zeigler, M ^a   Raas Rothschild, A ^a   Zlotogorski, A ^a   Gutman, A ^a   Korman, S H ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b AARHUS UNIVERSITY   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; TRANSACTIVATOR PROTEIN;

ADULT; ARTICLE; CHILD; CHORION VILLUS SAMPLING; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; INFANT; INTRON; LIVER; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; OCULOCUTANEOUS TYROSINEMIA TYPE 2; PALESTINE; PREDICTION; PRENATAL DIAGNOSIS; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; RNA SPLICING; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; TYROSINEMIA;

ADULT; ALTERNATIVE SPLICING; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; EYE DISEASES; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; ISRAEL; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SKIN DISEASES; TYROSINE TRANSAMINASE; TYROSINEMIAS;

EID: 33748708012     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-0407-8     Document Type: Article

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