monogenic diseases - gene

The exercise was created 2024-02-29 by idutt. Question count: 15.




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  • achondroplasia FGFR3
  • hypochondroplasia FGFR3
  • familial hypercholesterolemia LDLR
  • saddan FGFR3
  • thanatophoric dysplasia FGFR3
  • variegate porphyria PPOX
  • haemochromatosis HFE
  • cystic fibrosis CFTR
  • phenylketonuria PAH
  • danon disease LAMP2
  • azoospermia, oligozoospermia AZF
  • daltonism OPN1LW
  • haemophilia A F8
  • hamophilia B F8
  • leri weil syndrome SHOX

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