Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II

Human Genetics

Volumn 102, Issue 3, 1998, Pages 305-313

  Hühn, Regina ^a   Stoermer, Heike ^a   Klingele, Beate ^a   Bausch, Elke ^a   Fois, Alberto ^b   Farnetani, Mariangela ^b   Di Rocco, Maja ^c   Boué, Joelle ^d   Kirk, Jean M ^e   Coleman, Rosalind ^f   Scherer, Gerd ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF SIENA   (Italy)

^c G GASLINI INSTITUTE   (Italy)

^d Centres d'Etud de Biol Prenatale   (France)

^e ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^f UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DINUCLEOTIDE; DNA; TYROSINE; TYROSINE AMINOTRANSFERASE;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CPG ISLAND; DNA POLYMORPHISM; ENZYME ACTIVITY; EXON; FEMALE; FRANCE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HAPLOTYPE; HUMAN; ITALY; MALE; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM; TYROSINEMIA; UNITED KINGDOM; UNITED STATES;

ADULT; AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; ESCHERICHIA COLI; EXONS; FEMALE; GENE EXPRESSION; HAPLOTYPES; HUMANS; INFANT; INFANT, NEWBORN; ITALY; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECOMBINANT FUSION PROTEINS; TYROSINE; TYROSINE TRANSAMINASE;

EID: 2642682431     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050696     Document Type: Article

References (27)

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