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Q34262977-BE560830-5A37-4FEC-BD95-F4929CE90685
Q34262977-BE560830-5A37-4FEC-BD95-F4929CE90685
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34262977-BE560830-5A37-4FEC-BD95-F4929CE90685
A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms.
P2860
Q34262977-BE560830-5A37-4FEC-BD95-F4929CE90685
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34262977-BE560830-5A37-4FEC-BD95-F4929CE90685
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wasDerivedFrom
67dc3a77bed2dd5a5a888949d6ea508e69dfcb34
P2860
A substitution of cysteine for glycine 748 of the alpha 1 chain produces a kink at this site in the procollagen I molecule and an altered N-proteinase cleavage site over 225 nm away.