Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

Andrew Nesbit, Fadil M Hannan, Sarah A Howles, Anita A C Reed, Treena Cranston, Clare E Thakker, Lorna Gregory, Andrew J Rimmer, Nigel Rust, Una Graham, Patrick J Morrison, Steven J Hunter, Michael P Whyte, Gil McVean, David Buck, Rajesh V Thakker

    Research output: Contribution to journalArticle

    125 Citations (Scopus)
    LanguageEnglish
    Pages93
    JournalNature Genetics
    Volume45
    Issue number1
    DOIs
    Publication statusPublished - 2012

    Cite this

    Nesbit, A., Hannan, F. M., Howles, S. A., Reed, A. A. C., Cranston, T., Thakker, C. E., ... Thakker, R. V. (2012). Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. Nature Genetics, 45(1), 93. https://doi.org/10.1038/ng.2492
    Nesbit, Andrew ; Hannan, Fadil M ; Howles, Sarah A ; Reed, Anita A C ; Cranston, Treena ; Thakker, Clare E ; Gregory, Lorna ; Rimmer, Andrew J ; Rust, Nigel ; Graham, Una ; Morrison, Patrick J ; Hunter, Steven J ; Whyte, Michael P ; McVean, Gil ; Buck, David ; Thakker, Rajesh V. / Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. In: Nature Genetics. 2012 ; Vol. 45, No. 1. pp. 93.
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    title = "Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3",
    author = "Andrew Nesbit and Hannan, {Fadil M} and Howles, {Sarah A} and Reed, {Anita A C} and Treena Cranston and Thakker, {Clare E} and Lorna Gregory and Rimmer, {Andrew J} and Nigel Rust and Una Graham and Morrison, {Patrick J} and Hunter, {Steven J} and Whyte, {Michael P} and Gil McVean and David Buck and Thakker, {Rajesh V}",
    year = "2012",
    doi = "10.1038/ng.2492",
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    Nesbit, A, Hannan, FM, Howles, SA, Reed, AAC, Cranston, T, Thakker, CE, Gregory, L, Rimmer, AJ, Rust, N, Graham, U, Morrison, PJ, Hunter, SJ, Whyte, MP, McVean, G, Buck, D & Thakker, RV 2012, 'Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3', Nature Genetics, vol. 45, no. 1, pp. 93. https://doi.org/10.1038/ng.2492

    Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. / Nesbit, Andrew; Hannan, Fadil M; Howles, Sarah A; Reed, Anita A C; Cranston, Treena; Thakker, Clare E; Gregory, Lorna; Rimmer, Andrew J; Rust, Nigel; Graham, Una; Morrison, Patrick J; Hunter, Steven J; Whyte, Michael P; McVean, Gil; Buck, David; Thakker, Rajesh V.

    In: Nature Genetics, Vol. 45, No. 1, 2012, p. 93.

    Research output: Contribution to journalArticle

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    T1 - Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

    AU - Nesbit, Andrew

    AU - Hannan, Fadil M

    AU - Howles, Sarah A

    AU - Reed, Anita A C

    AU - Cranston, Treena

    AU - Thakker, Clare E

    AU - Gregory, Lorna

    AU - Rimmer, Andrew J

    AU - Rust, Nigel

    AU - Graham, Una

    AU - Morrison, Patrick J

    AU - Hunter, Steven J

    AU - Whyte, Michael P

    AU - McVean, Gil

    AU - Buck, David

    AU - Thakker, Rajesh V

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    Y1 - 2012

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    DO - 10.1038/ng.2492

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    VL - 45

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    JO - Nature Genetics

    T2 - Nature Genetics

    JF - Nature Genetics

    SN - 1061-4036

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    Nesbit A, Hannan FM, Howles SA, Reed AAC, Cranston T, Thakker CE et al. Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. Nature Genetics. 2012;45(1):93. https://doi.org/10.1038/ng.2492