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Volumn 9, Issue 1, 1997, Pages 88-90
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Phenylketonuria splice mutation (EXON6nt-96A→g) masquerading as missense mutation (Y204C)
a a a |
Author keywords
[No Author keywords available]
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Indexed keywords
COMPLEMENTARY DNA;
DNA;
MESSENGER RNA;
PHENYLALANINE 4 MONOOXYGENASE;
ARTICLE;
CASE REPORT;
DNA SEQUENCE;
ENZYME DEFICIENCY;
GENE MUTATION;
HUMAN;
HUMAN CELL;
MISSENSE MUTATION;
NORWAY;
PHENYLKETONURIA;
POINT MUTATION;
PRIORITY JOURNAL;
REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;
RNA SPLICING;
EXONS;
HUMANS;
MUTATION;
PHENYLKETONURIAS;
RNA SPLICING;
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EID: 0031028927
PISSN: 10597794
EISSN: None
Source Type: Journal
DOI: 10.1002/(SICI)1098-1004(1997)9:1<88::AID-HUMU21>3.0.CO;2-K Document Type: Article |
Times cited : (30)
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References (8)
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