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2 research outputs found
Novel human pathological mutations. Gene symbol: PLOD1. Disease: Ehlers-Danlos syndrome type VIA, kyphoscoliotic type.
Author
BĂĽrer-Chambaz C
Giunta C
Steinmann B
Publication venue
'Springer Fachmedien Wiesbaden GmbH'
Publication date
01/01/2009
Field of study
Full text link
ZORA
Genetic heterogeneity in the Brittle Cornea Syndrome (BCS) –New evidences that ZNF469 and PRDM5 regulate extracellular matrix development and maintenance within the same pathway
Author
Al-Hussain H.
Bakshi M.
+13Â more
Black G. C. M.
Burkitt Wright E.M.M.
BĂĽrer-Chambaz C.
Colombi M.
Giunta C.
Janecke A.R.
Manson F.
Rohrbach M.
Sillence D.
Spencer H.L.
Steinmann B.
Wilson M.
Zoppi N.
Publication venue
Publication date
01/01/2011
Field of study
No full text
Archivio istituzionale della ricerca - UniversitĂ di Brescia