Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).

Angela Rogers; M. Andrew Nesbit; Fadil M Hannan; Sarah A Howles; Caroline M Gorvin; Treena Cranston; Jeremy Allgrove; John S Bevan; Gul Bano; Caroline Brain; Vipan Datta; Ashley B Grossman; Shirley V Hodgson; Louise Izatt; Lynne Millar-Jones; Simon H Pearce; Lisa Robertson; Peter L Selby; Brian Shine; Katie Snape; Justin Warner; Rajesh V Thakker

Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).

Angela Rogers
, M. Andrew Nesbit
, Fadil M Hannan
, Sarah A Howles
, Caroline M Gorvin
, Treena Cranston
, Jeremy Allgrove
, John S Bevan
, Gul Bano
, Caroline Brain
, Vipan Datta
, Ashley B Grossman
, Shirley V Hodgson
, Louise Izatt
, Lynne Millar-Jones
, Simon H Pearce
, Lisa Robertson
, Peter L Selby
, Brian Shine
, Katie Snape

Justin Warner, Rajesh V Thakker

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

18 Citations (Scopus)

Abstract

The absence of AP2S1 abnormalities in hypocalcemic patients, suggests that ADH3 may not occur or otherwise represents a rare hypocalcemic disorder.

Original language	English
Pages (from-to)	E1300-5
Journal	The Journal of clinical endocrinology and metabolism
Volume	99
Issue number	7
Publication status	Published (in print/issue) - 2014

UN SDGs

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

SDG 3 Good Health and Well-being

Keywords

autosomal dominant hypocalcemia
adaptor protein
Mutational analysis

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http://uir.ulster.ac.uk/32240/1/jc%252E2013-3909.pdf

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Rogers, A., Nesbit, M. A., Hannan, F. M., Howles, S. A., Gorvin, C. M., Cranston, T., Allgrove, J., Bevan, J. S., Bano, G., Brain, C., Datta, V., Grossman, A. B., Hodgson, S. V., Izatt, L., Millar-Jones, L., Pearce, S. H., Robertson, L., Selby, P. L., Shine, B., ... Thakker, R. V. (2014). Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3). The Journal of clinical endocrinology and metabolism, 99(7), E1300-5. http://uir.ulster.ac.uk/32240/1/jc%252E2013-3909.pdf

@article{1409018f34d34bf085f4193cf5cf8aed,

title = "Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).",

abstract = "The absence of AP2S1 abnormalities in hypocalcemic patients, suggests that ADH3 may not occur or otherwise represents a rare hypocalcemic disorder.",

keywords = "autosomal dominant hypocalcemia, adaptor protein, Mutational analysis",

author = "Angela Rogers and Nesbit, \{M. Andrew\} and Hannan, \{Fadil M\} and Howles, \{Sarah A\} and Gorvin, \{Caroline M\} and Treena Cranston and Jeremy Allgrove and Bevan, \{John S\} and Gul Bano and Caroline Brain and Vipan Datta and Grossman, \{Ashley B\} and Hodgson, \{Shirley V\} and Louise Izatt and Lynne Millar-Jones and Pearce, \{Simon H\} and Lisa Robertson and Selby, \{Peter L\} and Brian Shine and Katie Snape and Justin Warner and Thakker, \{Rajesh V\}",

year = "2014",

language = "English",

volume = "99",

pages = "E1300--5",

journal = "The Journal of clinical endocrinology and metabolism",

issn = "1945-7197",

publisher = "Endocrine Society",

number = "7",

}

Rogers, A, Nesbit, MA, Hannan, FM, Howles, SA, Gorvin, CM, Cranston, T, Allgrove, J, Bevan, JS, Bano, G, Brain, C, Datta, V, Grossman, AB, Hodgson, SV, Izatt, L, Millar-Jones, L, Pearce, SH, Robertson, L, Selby, PL, Shine, B, Snape, K, Warner, J & Thakker, RV 2014, 'Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).', The Journal of clinical endocrinology and metabolism, vol. 99, no. 7, pp. E1300-5. <http://uir.ulster.ac.uk/32240/1/jc%252E2013-3909.pdf>

TY - JOUR

T1 - Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).

AU - Rogers, Angela

AU - Nesbit, M. Andrew

AU - Hannan, Fadil M

AU - Howles, Sarah A

AU - Gorvin, Caroline M

AU - Cranston, Treena

AU - Allgrove, Jeremy

AU - Bevan, John S

AU - Bano, Gul

AU - Brain, Caroline

AU - Datta, Vipan

AU - Grossman, Ashley B

AU - Hodgson, Shirley V

AU - Izatt, Louise

AU - Millar-Jones, Lynne

AU - Pearce, Simon H

AU - Robertson, Lisa

AU - Selby, Peter L

AU - Shine, Brian

AU - Snape, Katie

AU - Warner, Justin

AU - Thakker, Rajesh V

PY - 2014

Y1 - 2014

N2 - The absence of AP2S1 abnormalities in hypocalcemic patients, suggests that ADH3 may not occur or otherwise represents a rare hypocalcemic disorder.

AB - The absence of AP2S1 abnormalities in hypocalcemic patients, suggests that ADH3 may not occur or otherwise represents a rare hypocalcemic disorder.

KW - autosomal dominant hypocalcemia

KW - adaptor protein

KW - Mutational analysis

M3 - Article

SN - 1945-7197

VL - 99

SP - E1300-5

JO - The Journal of clinical endocrinology and metabolism

JF - The Journal of clinical endocrinology and metabolism

IS - 7

ER -

Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).

Abstract

UN SDGs

Keywords

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