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Paper Information

Journal:   IRANIAN BIOMEDICAL JOURNAL   April 2003 , Volume 7 , Number 2; Page(s) 89 To 90.
 
Paper: 

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

 
 
Author(s):  KAMKAR MANOUCHEHR*, SAADAT M., SAADAT I., HAGHIGHI G.
 
* DEPT OF BIOLOGY,COLLEGE OF SCIENCE , SHIRAZ UNIVERSITY SHIRAZ, IRAN
 
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.
 
Keyword(s): PHENYLKETONURIA (PKU), PHENYLALANINE HYDROXYLASE (PAH), VARIABLE NUMBER OF TANDEM REPEATS (VNTR)
 
 
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Citations: 
 
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APA: Copy

KAMKAR, M., & 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. https://www.sid.ir/en/journal/ViewPaper.aspx?id=2871



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. 2003 [cited 2021June21];7(2):89-90. Available from: https://www.sid.ir/en/journal/ViewPaper.aspx?id=2871



IEEE: Copy

KAMKAR, M., 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, [online] 7(2), pp.89-90. Available: https://www.sid.ir/en/journal/ViewPaper.aspx?id=2871.



 
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