Haplotypes and mutations of the PAH locus in Egyptian families with PKU

  title={Haplotypes and mutations of the PAH locus in Egyptian families with PKU},
  author={Laila Kamal El-Din Effat and Anastasia Kuzmin and N Kasem and Nagwa Abdel Meguid and Saeed Kotb and R Eisensmith and S Temtamy and S Rushdi and S Woo and Mostafa El-Awady},
  journal={European Journal of Human Genetics},
A high degree of molecular heterogeneneity at the phenylalanine hydroxylase (PAH) locus was established by examining RFLP haplotypes and PAH mutations in the families of 13 Egyptians with phenylketenouria (PKU). Thirteen different haplotypes were unequivocally determined in these kindreds. Haplotypes 1.8, 3.9, 4.3, 7.8, 22.11, 27.6, and 52.8 were found segregating with normal chromosomes, whilst haplotypes 1.8, 5.9, 23.8, 32.8, the newly assigned 73.9, and two as yet incomplete but novel… CONTINUE READING


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