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Chiodo, AA, Sillence, DO, Cole, WG, Bateman, JF.
Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix..
Biochem J
311 ( Pt 3)(Pt 3)
:
939 -943
1995
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Adès, LC, Waltham, RD, Chiodo, AA, Bateman, JF.
Myocardial infarction resulting from coronary artery dissection in an adolescent with Ehlers-Danlos syndrome type IV due to a type III collagen mutation..
Br Heart J
74(2)
:
112 -116
1995
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Lamandé, SR, Bateman, JF.
The type I collagen pro alpha 1(I) COOH-terminal propeptide N-linked oligosaccharide. Functional analysis by site-directed mutagenesis..
J Biol Chem
270(30)
:
17858 -17865
1995
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Adès, LC, Morris, LL, Power, RG, Wilson, M, Haan, EA, Bateman, JF, Milewicz, DM, Sillence, DO.
Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome..
Am J Med Genet
57(4)
:
565 -572
1995
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Hallett, KB, Bankier, A, Chow, CW, Bateman, J, Hall, RK.
Gingival fibromatosis and Klippel-Trénaunay-Weber syndrome. Case report..
Oral Surg Oral Med Oral Pathol Oral Radiol Endod
79(5)
:
578 -582
1995
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