Splicing mutations, mainly IVS6.1 (G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients

Human Mutation

Volumn 20, Issue 3, 2002, Pages 180-188

  Arranz, J A ^a   Pinol F ^a   Kozak, L ^b   Perez Cerda C ^c   Cormand, B ^d   Ugarte, M ^c   Riudor, E ^a  

^a HOSPITAL MATERNO INFANTIL VALL D HEBRON   (Spain)

^b Research Institute of Child Health Brno   (Czech Republic)

^c UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^d UNIVERSITY OF BARCELONA   (Spain)

Author keywords

FAH; Fumarylacetoacetate hydrolase; Genotype phenotype; HT1; HTI; Splice site; SSCP; Tyrosinemia, hereditary, type I

Indexed keywords

COMPLEMENTARY DNA; FUMARYLACETOACETASE; RNA; DNA; HYDROLASE;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE MUTATION; GENOTYPE; HUMAN; KIDNEY DYSFUNCTION; LIVER DYSFUNCTION; MUSCLE HYPOTONIA; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RECURRENT INFECTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN EUROPE; TYROSINEMIA; ALTERNATIVE RNA SPLICING; CHEMISTRY; ENZYMOLOGY; FAMILY HEALTH; FEMALE; GENETICS; MALE; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PEDIGREE;

ALTERNATIVE SPLICING; BASE SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FAMILY HEALTH; FEMALE; GENOTYPE; HUMAN; HYDROLASES; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TYROSINEMIAS; HUMANS;

EID: 0036024996     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10084     Document Type: Article

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