Home
About
Overview
Sharing Data
ORCID
Help
History (3)
Assembling the fungal tree of life: progress, classification, and evolution of subcellular traits.
Co-Principal Investigator
The effect of surgeon experience on tympanic membrane closure.
See All 3 Pages
Find People
Find Everything
Login
to edit your profile (add a photo, awards, links to other websites, etc.)
Edit My Profile
My Person List (
0
)
Return to Top
Search Result Details
Back to Search Results
This page shows the details of why an item matched the keywords from your search.
Search Results
Refetoff, Samuel
One or more keywords matched the following items that are connected to
Refetoff, Samuel
Item Type
Name
Concept
RNA Splice Sites
Academic Article
Complete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-Kankakee).
Academic Article
Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene.
Academic Article
Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.
Academic Article
Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.
Search Criteria
RNA Splice Sites