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pah

pah

pah Sentence Examples

  • This family contains the paired amphipathic helix (PAH) repeat.

  • Back to top Mike again... Guest Posted: Fri May 06, 2005 10:28 am Post subject: yeah they probably would...rozzers pah!

  • Pah a+ g B Gulf of Siam 104 D C A NLB'O = D I A s° A too° hang Kut 1.141 Kon Pt.

  • Phenylketonuria (PKU) is a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine hydroxylase (PAH).

  • PKU is caused by the liver's inability to produce a particular type of PAH enzyme.

  • This is the only role of PAH in the body.

  • A lack of PAH results in the buildup of abnormally high phenylalanine concentrations (or levels) in the blood and brain.

  • PKU symptoms are caused by alterations or mutations in the genetic code for the PAH enzyme.

  • Mutations in the PAH gene prevent the liver from producing adequate levels of the PAH enzyme needed to break down phenylalanine.

  • The PAH gene and its PKU mutations are found on chromosome 12 in the human genome.

  • In more detail, PKU mutations can involve many different types of changes, such as deletions and insertions, in the DNA of the gene that codes for the PAH enzyme.

  • The normal PAH gene is dominant to recessive PKU mutations.

  • A carrier does not display any symptoms of the disease because the carrier's liver produces normal quantities of the PAH enzyme.

  • Subsequent diagnostic procedures (called mutation analysis and genotype determination) can actually identify the specific types of PAH gene mutations inherited by PKU infants.

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