Flashcards in Biochemistry Deck (372)
What chromosome is CFTR located on?
What male genitourinary structure is affected during CFTR? What happens to it?
Which two proteins does dystrophin bind?
Which trinucleotide disease can present with testicular atrophy?
What does the Myotonic of Myotonic Dystrophy lead to?
delayed muscle relaxation
What heart abnormality can present during Fragile X?
What disease is tested for by culturing lymphocytes with methotrexate or folate deficient medium and looking for breaks in chromosomes?
Which trisomy presents with a gap between the first two toes?
What type of ASD does Downs Syndrome present with?
Is PAPP-A increased or decreased during Downs?
Are the short arms or long arms lost during a robertsonian translocation?