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

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

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 1995
Externally published	Yes

All Science Journal Classification (ASJC) codes

Molecular Biology
Genetics
Genetics(clinical)

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10.1093/hmg/4.2.309

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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

@article{54461e90a9344d8ab159f28c227dc4e9,

title = "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",

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",

note = "Funding Information: The authors express their gratitude to Drs Helena Kuivaniemi and Gerard Tromp for control DNA from unrelated individuals. We also wish to thank Dr Paul LJ.Tan for processing of some patient DNA samples and Lee Harland for excellent technical assistance, This work was supported in part by NIH Grants AR39740 and AR38188, and by a grant from the Lucille RMarkey Charitable Trust",

year = "1995",

month = feb,

doi = "10.1093/hmg/4.2.309",

language = "English (US)",

volume = "4",

pages = "309--312",

journal = "Human molecular genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

number = "2",

}

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 et al.
In: Human molecular genetics, Vol. 4, No. 2, 02.1995, p. 309-312.

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

TY - JOUR

T1 - 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

AU - Williams, Charlene J.

AU - Rock, Matthew

AU - Considine, Eileen

AU - Mccarron, Seamus

AU - Gow, Peter

AU - Ladda, Roger

AU - Mclain, David

AU - Michels, Virginia M.

AU - Murphy, William

AU - Prockop, Darwin J.

AU - Ganguly, Arupa

N1 - Funding Information: The authors express their gratitude to Drs Helena Kuivaniemi and Gerard Tromp for control DNA from unrelated individuals. We also wish to thank Dr Paul LJ.Tan for processing of some patient DNA samples and Lee Harland for excellent technical assistance, This work was supported in part by NIH Grants AR39740 and AR38188, and by a grant from the Lucille RMarkey Charitable Trust

PY - 1995/2

Y1 - 1995/2

UR - https://www.scopus.com/pages/publications/0028912181

UR - https://www.scopus.com/pages/publications/0028912181#tab=citedBy

U2 - 10.1093/hmg/4.2.309

DO - 10.1093/hmg/4.2.309

M3 - Comment/debate

C2 - 7757086

AN - SCOPUS:0028912181

SN - 0964-6906

VL - 4

SP - 309

EP - 312

JO - Human molecular genetics

JF - Human molecular genetics

IS - 2

ER -

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

All Science Journal Classification (ASJC) codes

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