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protein syndrome
- ... also called PMM2 -CDG Cystic fibrosis D-bifunctional protein ... syndrome Gaucher disease Glycogen storage disease type I Hereditary ...
- ... structures call desmosomes that hold hair cells together, proteins called ... that feature altered hair texture include: Autosomal recessive ...
- ... 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 ...
- ... born with certain genetic abnormalities, such as Down syndrome and other ... test analyzes various protein and enzyme levels, which would be abnormal in ...
- ... 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 ...
- ... 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 ...
- ... of these conditions is suspected. (For example, Williams syndrome is caused by ... blueprint to make proteins . Gene expression tests study the mRNA in cells ...