Diverse PAH transcripts in lymphocytes of PKU patients with putative nonsense (G272X, Y356X) and missense (P281L, R408Q) mutations

FEBS Letters

Volumn 457, Issue 3, 1999, Pages 505-508

  Ellingsen, Ståle ^a   Knappskog, Per M ^a   Apold, Jaran ^a   Eiken, Hans Geir ^a  

^a UNIVERSITY OF BERGEN   (Norway)

Author keywords

Phenylalanine hydroxylase; Phenylketonuria mutation; RNA splicing

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; ENZYME STRUCTURE, FUNCTION AND VARIABILITY; EXON; GENE MUTATION; HUMAN; LYMPHOCYTE; NONSENSE MUTATION; PHENOTYPE; PHENYLKETONURIA; PRIORITY JOURNAL;

CELLS, CULTURED; HOMOZYGOTE; HUMANS; LYMPHOCYTES; MUTATION; MUTATION, MISSENSE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; RNA, MESSENGER; TRANSCRIPTION, GENETIC;

EID: 0032828885     PISSN: 00145793     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0014-5793(99)01095-9     Document Type: Article

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