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615 results
  1. ... syndrome have been located within an eight-amino-acid region of the PCNA-binding domain (nucleotides c.814 ... inherited allele that fall within an eight amino-acid region of the PCNA (proliferating cell nuclear antigen)-binding ...
  2. ... Molecular Pathogenesis ). σ4 has a 1-142 amino acid region that is involved in the assembly of the ...
  3. ... glycine residues localized in a short 30-amino acid region of the protein, whereas all but one pathogenic ...
  4. ... from 352 to 441 protein building blocks (amino acids). A region of the protein called the microtubule-binding domain, ... The very end of the NICD contains a region known as a proline-, glutamic acid-, serine-, and threonine-rich (PEST) domain. The PEST ...
  5. ... these variants change single protein building blocks (amino acids) in several regions of the enzyme. A few variants delete a ... Each of these variants changes a single amino acid in a region of the enzyme known as the allosteric site. ...
  6. ... core disease affect single protein building blocks (amino acids) in critical regions of the ryanodine receptor 1 protein. These mutations ... below). Most of these mutations change single amino acids in important regions of the ryanodine receptor 1 protein. These mutations ...
  7. ... from 352 to 441 protein building blocks (amino acids). A region of the protein called the microtubule-binding domain, ... 17). Some of these mutations change single amino acids in the tau protein, most often in the microtubule-binding region. These mutations reduce tau's ability to bind to ...
  8. ... with Jackson-Weiss syndrome changes a single amino acid in a region of the FGFR2 protein known as the IgIII ... this condition change the number of cysteine amino acids in a critical region of the FGFR2 protein known as the IgIII ...
  9. ... gene change a single protein building block (amino acid) in regions known as tyrosine kinase domains. Mutations in these ...
  10. ... the production of acids used in digestion (bile acids). Another region of the lamin B receptor, called the DNA- ...
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