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Results 1 - 7 of 7 for protein syndrome
  1. ... also called PMM2 -CDG Cystic fibrosis D-bifunctional protein ... syndrome Gaucher disease Glycogen storage disease type I Hereditary ...
  2. ... structures call desmosomes that hold hair cells together, proteins called ... that feature altered hair texture include: Autosomal recessive ...
  3. ... son. Y chromosome infertility , some cases of Swyer syndrome Codominant In codominant inheritance , two different versions (alleles) of a gene are expressed, and each version makes a slightly different protein. Both alleles influence the genetic trait or determine ...
  4. ... born with certain genetic abnormalities, such as Down syndrome and other ... test analyzes various protein and enzyme levels, which would be abnormal in ...
  5. ... BRAF leads to the production of an altered protein that causes melanocytes to aggregate into moles. This altered protein also triggers the production of a tumor-suppressor ...
  6. ... or in the nonpossessive form (e.g., Down syndrome ). The HUGO ... 20,000 to 25,000 protein-coding genes in the human genome. During the ...
  7. ... of these conditions is suspected. (For example, Williams syndrome is caused by ... blueprint to make proteins . Gene expression tests study the mRNA in cells ...