Hereditary tyrosinemia type 1: Novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; Variability of the genotype-phenotype relationship

Human Genetics

Volumn 97, Issue 1, 1996, Pages 51-59

  Van Ploos Amstel, J K ^a   Bergman, A J I W ^b   Van Beurden, E A C M ^b   Roijers, J F M ^a,b   Peelen, T ^a   Van Den Berg, I E T ^b   Poll The, B T ^b   Kvittingen, E A ^c   Berger, R ^b  

^a Clinical Genetics Center Utrecht   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c UNIVERSITY OF OSLO   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

FUMARYLACETOACETASE; MESSENGER RNA;

ARTICLE; CLINICAL ARTICLE; CONSENSUS SEQUENCE; EXON; GENE DELETION; GENOTYPE; HUMAN; HUMAN CELL; MISSENSE MUTATION; MUTATION RATE; NONSENSE MUTATION; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; TYROSINEMIA;

EID: 0030030672     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/bf00218833     Document Type: Article

References (23)

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