Topic
Medical genetics
3 questions tagged Medical genetics β spanning every one of the seven Ws.
where
Where is the CFTR gene located?
The CFTR gene is located on chromosome 7. Mutations in this gene cause cystic fibrosis.
GeneticsMedical genetics
whose
Whose work first linked single-gene mutations to inherited metabolic disease?
Archibald Garrod connected inherited disorders with specific biochemical defects in the early 1900s. He is often called a pioneer of biochemical genetics.
Human BiologyMedical Genetics
what
What is trisomy 21?
Trisomy 21 is a genetic condition caused by an extra copy of chromosome 21. It is the most common chromosomal cause of Down syndrome.
GeneticsMedical genetics