A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria.
Jaruzelska
J
J
Institute of Human Genetics, Polish Academy of Sciences, Poznan.
Melle
D
D
Matuszak
R
R
Borski
K
K
Munnich
A
A
D000595:Amino Acid Sequence; D001483:Base Sequence; D015139:Blotting, Southern; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D004262:DNA Restriction Enzymes; D005091:Exons; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology* / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping; D017384:Sequence Deletion
D009838:Oligodeoxyribonucleotides; D004247:DNA; D010651:Phenylalanine Hydroxylase; D004262:DNA Restriction Enzymes