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Information Journal Paper

Title

REPORT OF VNTR WITH 13 REPEATS LINKED TO PHENYLALANINE HYDROXYLASE LOCUS IN UNAFFECTED MEMBERS OF TWO PKU FAMILIES

Pages

  89-90

Keywords

PHENYLKETONURIA (PKU) 
PHENYLALANINE HYDROXYLASE (PAH) 
VARIABLE NUMBER OF TANDEM REPEATS (VNTR) 

Abstract

 Phenylketonuria (PKU) is one of the most common metabolic inborn diseases caused by mutations in the phenylalanine hydroxylase (PAH) gene. This gene is linked to a variable number of tandem repeats (VNTR) region which is a polymorphic marker that facilitates the implementation of prenatal diagnosis and carrier screening. In this study, VNTR with 13 repeats that has not been reported previously was observed in 2 PKU families from Fars province, south of Iran. This allele showed 4% frequency in normal individuals.

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    APA: Copy

    KAMKAR, MANOUCHEHR, SAADAT, M., SAADAT, I., & HAGHIGHI, G.. (2003). REPORT OF VNTR WITH 13 REPEATS LINKED TO PHENYLALANINE HYDROXYLASE LOCUS IN UNAFFECTED MEMBERS OF TWO PKU FAMILIES. IRANIAN BIOMEDICAL JOURNAL, 7(2), 89-90. SID. https://sid.ir/paper/276950/en

    Vancouver: Copy

    KAMKAR MANOUCHEHR, SAADAT M., SAADAT I., HAGHIGHI G.. REPORT OF VNTR WITH 13 REPEATS LINKED TO PHENYLALANINE HYDROXYLASE LOCUS IN UNAFFECTED MEMBERS OF TWO PKU FAMILIES. IRANIAN BIOMEDICAL JOURNAL[Internet]. 2003;7(2):89-90. Available from: https://sid.ir/paper/276950/en

    IEEE: Copy

    MANOUCHEHR KAMKAR, M. SAADAT, I. SAADAT, and G. HAGHIGHI, “REPORT OF VNTR WITH 13 REPEATS LINKED TO PHENYLALANINE HYDROXYLASE LOCUS IN UNAFFECTED MEMBERS OF TWO PKU FAMILIES,” IRANIAN BIOMEDICAL JOURNAL, vol. 7, no. 2, pp. 89–90, 2003, [Online]. Available: https://sid.ir/paper/276950/en

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