pathologies genetics col1, GENES

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

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achondroplasia FGFR3
hypochondroplasia FGFR3
SADDAN FGFR3
thanatophoric dysplasia FGFR3
familial hypercholesterolemia (most common gene) LDLR
variegate porphyria PPOX
haemochromatosis HFE
phenylketonuria PAH
cystic fibrosis CFTR
danon disease LAMP2
azoospermia, oligospermia deletion of AZF
leri weil syndrome SHOX
daltonism OPN1LW or OPN1MW
haemophilia A F8
haemophilia B F8

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