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Volumn 506, Issue 1, 2012, Pages 230-232
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Mutation spectrum of the PAH gene in the PKU patients from Khorasan Razavi province of Iran
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Author keywords
Carrier testing; Consanguineous marriages; Khorasan Razavi; New mutation; PKU
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Indexed keywords
PHENYLALANINE 4 MONOOXYGENASE;
ARTICLE;
CATALYSIS;
CHILD;
CHROMOSOME ANALYSIS;
CLINICAL ARTICLE;
DNA SEQUENCE;
EXON;
FEMALE;
GENE FREQUENCY;
GENE IDENTIFICATION;
GENE LOCATION;
GENE MUTATION;
GENETIC ANALYSIS;
HOMOZYGOTE;
HUMAN;
IRAN;
MISSENSE MUTATION;
NONSENSE MUTATION;
PHENYLKETONURIA;
PRIORITY JOURNAL;
RNA SPLICING;
SCHOOL CHILD;
BASE SEQUENCE;
CONSANGUINITY;
DNA;
DNA MUTATIONAL ANALYSIS;
EXONS;
FEMALE;
GENETIC ASSOCIATION STUDIES;
HOMOZYGOTE;
HUMANS;
IRAN;
MALE;
MOLECULAR SEQUENCE DATA;
MUTATION;
PHENYLALANINE HYDROXYLASE;
PHENYLKETONURIAS;
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EID: 84864516170
PISSN: 03781119
EISSN: 18790038
Source Type: Journal
DOI: 10.1016/j.gene.2012.06.043 Document Type: Article |
Times cited : (20)
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References (10)
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