AJMB-Avicenna Journal of Medical Biotechnology. 2017; 9 (3): 146-149
in English
| IMEMR
| ID: emr-192943
ABSTRACT
Background:
Phenylalanine hydroxylase [PAH] gene is the well-known causative gene for classic Phenylketonuria [PKU] [OMIM#261600] disease, with more than 500 reported mutations. Through this study, a novel mutation in the PAH gene in an Iranian pedigree with phenylketonuria was introduced
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Index:
IMEMR (Eastern Mediterranean)
Language:
English
Journal:
Avicenna J. Med. Biotechnol.
Year:
2017
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