Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites

F. M. Hannan; Andrew Nesbit; C. Zhang; T. Cranston; A. J. Curley; B. Harding; C. Fratter; N. Rust; P. T. Christie; J. J. O. Turner; M. C. Lemos; M. R. Bowl; R. Bouillon; C. Brain; N. Bridges; C. Burren; J. M. Connell; H. Jung; E. Marks; D. McCredie; Z. Mughal; C. Rodda; S. Tollefsen; E. M. Brown; J. J. Yang; R. V. Thakker

doi:10.1093/hmg/dds105

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites

F. M. Hannan
, Andrew Nesbit
, C. Zhang
, T. Cranston
, A. J. Curley
, B. Harding
, C. Fratter
, N. Rust
, P. T. Christie
, J. J. O. Turner
, M. C. Lemos
, M. R. Bowl
, R. Bouillon
, C. Brain
, N. Bridges
, C. Burren
, J. M. Connell
, H. Jung
, E. Marks
, D. McCredie

Z. Mughal, C. Rodda, S. Tollefsen, E. M. Brown, J. J. Yang, R. V. Thakker

Research output: Contribution to journal › Article › peer-review

171 Citations (Scopus)

Original language	English
Pages (from-to)	2768
Journal	Human Molecular Genetics
Volume	21
Issue number	12
DOIs	https://doi.org/10.1093/hmg/dds105
Publication status	Published (in print/issue) - 2012

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Access to Document

10.1093/hmg/dds105

Cite this

Hannan, F. M., Nesbit, A., Zhang, C., Cranston, T., Curley, A. J., Harding, B., Fratter, C., Rust, N., Christie, P. T., Turner, J. J. O., Lemos, M. C., Bowl, M. R., Bouillon, R., Brain, C., Bridges, N., Burren, C., Connell, J. M., Jung, H., Marks, E., ... Thakker, R. V. (2012). Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites. Human Molecular Genetics, 21(12), 2768. https://doi.org/10.1093/hmg/dds105

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title = "Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites",

author = "Hannan, \{F. M.\} and Andrew Nesbit and C. Zhang and T. Cranston and Curley, \{A. J.\} and B. Harding and C. Fratter and N. Rust and Christie, \{P. T.\} and Turner, \{J. J. O.\} and Lemos, \{M. C.\} and Bowl, \{M. R.\} and R. Bouillon and C. Brain and N. Bridges and C. Burren and Connell, \{J. M.\} and H. Jung and E. Marks and D. McCredie and Z. Mughal and C. Rodda and S. Tollefsen and Brown, \{E. M.\} and Yang, \{J. J.\} and Thakker, \{R. V.\}",

year = "2012",

doi = "10.1093/hmg/dds105",

language = "English",

volume = "21",

pages = "2768",

journal = "Human Molecular Genetics",

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publisher = "Oxford University Press",

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}

Hannan, FM, Nesbit, A, Zhang, C, Cranston, T, Curley, AJ, Harding, B, Fratter, C, Rust, N, Christie, PT, Turner, JJO, Lemos, MC, Bowl, MR, Bouillon, R, Brain, C, Bridges, N, Burren, C, Connell, JM, Jung, H, Marks, E, McCredie, D, Mughal, Z, Rodda, C, Tollefsen, S, Brown, EM, Yang, JJ & Thakker, RV 2012, 'Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites', Human Molecular Genetics, vol. 21, no. 12, pp. 2768. https://doi.org/10.1093/hmg/dds105

TY - JOUR

T1 - Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites

AU - Hannan, F. M.

AU - Nesbit, Andrew

AU - Zhang, C.

AU - Cranston, T.

AU - Curley, A. J.

AU - Harding, B.

AU - Fratter, C.

AU - Rust, N.

AU - Christie, P. T.

AU - Turner, J. J. O.

AU - Lemos, M. C.

AU - Bowl, M. R.

AU - Bouillon, R.

AU - Brain, C.

AU - Bridges, N.

AU - Burren, C.

AU - Connell, J. M.

AU - Jung, H.

AU - Marks, E.

AU - McCredie, D.

AU - Mughal, Z.

AU - Rodda, C.

AU - Tollefsen, S.

AU - Brown, E. M.

AU - Yang, J. J.

AU - Thakker, R. V.

PY - 2012

Y1 - 2012

U2 - 10.1093/hmg/dds105

DO - 10.1093/hmg/dds105

M3 - Article

SN - 1460-2083

VL - 21

SP - 2768

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 12

ER -