Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1996 | 1 |
2000 | 2 |
2024 | 0 |
Search Results
3 results
Results by year
Filters applied: . Clear all
Page 1
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.
Am J Hum Genet. 2000 Jun;66(6):1766-76. doi: 10.1086/302930. Epub 2000 Apr 24.
Am J Hum Genet. 2000.
PMID: 10777716
Free PMC article.
Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).
Schwarze U, Atkinson M, Hoffman GG, Greenspan DS, Byers PH.
Schwarze U, et al.
Am J Hum Genet. 2000 Jun;66(6):1757-65. doi: 10.1086/302933. Epub 2000 May 4.
Am J Hum Genet. 2000.
PMID: 10796876
Free PMC article.
Item in Clipboard
A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.
Toriello HV, Glover TW, Takahara K, Byers PH, Miller DE, Higgins JV, Greenspan DS.
Toriello HV, et al.
Nat Genet. 1996 Jul;13(3):361-5. doi: 10.1038/ng0796-361.
Nat Genet. 1996.
PMID: 8673139
Item in Clipboard
Cite
Cite