A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria

An A-->T substitution in cDNA nucleotide 1197 (c.1197A/T) of the human phenylalanine hydroxylase (PAH) gene has been regarded as a silent mutation, because both the wild-type (GUA) and the mutant (GUU) alleles encode a valine residue at codon 399 (V399 V). The nucleotide c.1197 is located at the...

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Veröffentlicht in:	Human genetics 2001-01, Vol.108 (1), p.14-19
Hauptverfasser:	CHAO, Hung-Kun, HSIAO, Kwang-Jen, SU, Tsung-Sheng
Format:	Artikel
Sprache:	eng
Schlagworte:	Aminoacid disorders Base Sequence Biological and medical sciences Errors of metabolism Exons Humans Medical sciences Metabolic diseases Mutation Phenylalanine Hydroxylase - genetics Phenylketonurias - enzymology Phenylketonurias - genetics Reverse Transcriptase Polymerase Chain Reaction RNA, Messenger - genetics Transfection Tumor Cells, Cultured
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