Review Note
Last Update: 12/09/2024 11:18 AM
Current Deck: BUMed Mother Deck::YL2.S1-PATHOLOGY::PTH.S1.L14.Diseases of Infancy and Childhood::V. Galactosemia to Cystic Fibrosis
Published
Fields:
Front
Identification: This type of mutation is associated with reduced abundance or production mutations
Back
Class V mutationsOther information:
- These mutations typically affect intronic splice sites or CFTR promoters such that there is a reduced amount of normal protein
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Deck Changes (Suggestion to move the Note to the following Deck):
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