Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519→Cys base substitution using conformation sensitive gel electrophoresis

Charlene J. Williams; Matthew Rock; Eileen Considine; Seamus Mccarron; Peter Gow; Roger Ladda; David Mclain; Virginia M. Michels; William Murphy; Darwin J. Prockop; Arupa Ganguly

doi:10.1093/hmg/4.2.309

Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519→Cys base substitution using conformation sensitive gel electrophoresis

Charlene J. Williams, Matthew Rock, Eileen Considine, Seamus Mccarron, Peter Gow, Roger Ladda, David Mclain, Virginia M. Michels, William Murphy, Darwin J. Prockop, Arupa Ganguly

CMSRU Biomedical Science

Research output: Contribution to journal › Comment/debate › peer-review

62 Scopus citations

Original language	English (US)
Pages (from-to)	309-312
Number of pages	4
Journal	Human molecular genetics
Volume	4
Issue number	2
DOIs	https://doi.org/10.1093/hmg/4.2.309
State	Published - Feb 1 1995

All Science Journal Classification (ASJC) codes

Molecular Biology
Genetics
Genetics(clinical)

Access to Document

10.1093/hmg/4.2.309

Cite this

Williams, C. J., Rock, M., Considine, E., Mccarron, S., Gow, P., Ladda, R., Mclain, D., Michels, V. M., Murphy, W., Prockop, D. J., & Ganguly, A. (1995). Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519→Cys base substitution using conformation sensitive gel electrophoresis. Human molecular genetics, 4(2), 309-312. https://doi.org/10.1093/hmg/4.2.309

Williams, Charlene J. ; Rock, Matthew ; Considine, Eileen ; Mccarron, Seamus ; Gow, Peter ; Ladda, Roger ; Mclain, David ; Michels, Virginia M. ; Murphy, William ; Prockop, Darwin J. ; Ganguly, Arupa. / Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519→Cys base substitution using conformation sensitive gel electrophoresis. In: Human molecular genetics. 1995 ; Vol. 4, No. 2. pp. 309-312.

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author = "Williams, {Charlene J.} and Matthew Rock and Eileen Considine and Seamus Mccarron and Peter Gow and Roger Ladda and David Mclain and Michels, {Virginia M.} and William Murphy and Prockop, {Darwin J.} and Arupa Ganguly",

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Williams, CJ, Rock, M, Considine, E, Mccarron, S, Gow, P, Ladda, R, Mclain, D, Michels, VM, Murphy, W, Prockop, DJ & Ganguly, A 1995, 'Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519→Cys base substitution using conformation sensitive gel electrophoresis', Human molecular genetics, vol. 4, no. 2, pp. 309-312. https://doi.org/10.1093/hmg/4.2.309

Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519→Cys base substitution using conformation sensitive gel electrophoresis. / Williams, Charlene J.; Rock, Matthew; Considine, Eileen; Mccarron, Seamus; Gow, Peter; Ladda, Roger; Mclain, David; Michels, Virginia M.; Murphy, William; Prockop, Darwin J.; Ganguly, Arupa.

In: Human molecular genetics, Vol. 4, No. 2, 01.02.1995, p. 309-312.

Research output: Contribution to journal › Comment/debate › peer-review

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