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Chan, D, Freddi, S, Weng, YM, Bateman, JF.
Interaction of collagen alpha1(X) containing engineered NC1 mutations with normal alpha1(X) in vitro. Implications for the molecular basis of schmid metaphyseal chondrodysplasia..
J Biol Chem
274(19)
:
13091 -13097
1999
view publication
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Savarirayan, R, Freddi, S, Bateman, JF.
Novel Protein Truncation Test To Detect COL2A1 Nonsense Mutations in Stickler Syndrome.
Pediatric Research
45(7)
:
141 -141
1999
view publication
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Savarirayan, R, Freddi, S, Bateman, JF.
Novel Protein Truncation Test to detect COL2AI Nonsense Mutations in Stickler syndrome.
Genetics in Medicine
1(2)
:
44 -44
1999
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Bateman, JF, Freddi, S, Lamandé, SR, Byers, P, Nasioulas, S, Douglas, J, Otway, R, Kohonen-Corish, M, Edkins, E, Forrest, S.
Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability..
Hum Mutat
13(4)
:
311 -317
1999
view publication
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Aszódi, A, Chan, D, Hunziker, E, Bateman, JF, Fässler, R.
Collagen II is essential for the removal of the notochord and the formation of intervertebral discs..
J Cell Biol
143(5)
:
1399 -1412
1998
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