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 & 2 others Justin Warner, Rajesh V Thakker

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

The absence of AP2S1 abnormalities in hypocalcemic patients, suggests that ADH3 may not occur or otherwise represents a rare hypocalcemic disorder.
LanguageEnglish
PagesE1300-5
JournalThe Journal of clinical endocrinology and metabolism
Volume99
Issue number7
Publication statusPublished - 2014

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Sigma Factor
Genes
Proteins
Familial Hypercalciuric Hypocalcemia

Keywords

  • autosomal dominant hypocalcemia
  • adaptor protein
  • Mutational analysis

Cite this

Rogers, Angela ; Nesbit, M. Andrew ; Hannan, Fadil M ; Howles, Sarah A ; Gorvin, Caroline M ; Cranston, Treena ; Allgrove, Jeremy ; Bevan, John S ; Bano, Gul ; Brain, Caroline ; Datta, Vipan ; Grossman, Ashley B ; Hodgson, Shirley V ; Izatt, Louise ; Millar-Jones, Lynne ; Pearce, Simon H ; Robertson, Lisa ; Selby, Peter L ; Shine, Brian ; Snape, Katie ; Warner, Justin ; Thakker, Rajesh V. / Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3). In: The Journal of clinical endocrinology and metabolism. 2014 ; Vol. 99, No. 7. pp. E1300-5.
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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 = "Journal of Clinical Endocrinology and Metabolism",
issn = "0021-972X",
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.

Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3). / Rogers, Angela; Nesbit, M. Andrew; Hannan, Fadil M; Howles, Sarah A; Gorvin, Caroline M; Cranston, Treena; Allgrove, Jeremy; Bevan, John S; Bano, Gul; Brain, Caroline; Datta, Vipan; Grossman, Ashley B; Hodgson, Shirley V; Izatt, Louise; Millar-Jones, Lynne; Pearce, Simon H; Robertson, Lisa; Selby, Peter L; Shine, Brian; Snape, Katie; Warner, Justin; Thakker, Rajesh V.

In: The Journal of clinical endocrinology and metabolism, Vol. 99, No. 7, 2014, p. E1300-5.

Research output: Contribution to journalArticle

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

VL - 99

SP - E1300-5

JO - Journal of Clinical Endocrinology and Metabolism

T2 - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

SN - 0021-972X

IS - 7

ER -