Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: Implications for prenatal diagnosis

A. C. Thomas; C. Sinclair; N. Mahmud; T. Cullup; J. E. Mellerio; J. Harper; B. A. Dale; C. Turc-Carel; D. Hohl; J. A. McGrath; A. Vahlquist; M. Hellstrom-Pigg; A. Ganemo; K. Metcalfe; C. A. Mein; E. A. O'Toole; D. P. Kelsell

doi:10.1111/j.1365-2133.2007.08277.x

Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: Implications for prenatal diagnosis

A. C. Thomas
, C. Sinclair
, N. Mahmud
, T. Cullup
, J. E. Mellerio
, J. Harper
, B. A. Dale
, C. Turc-Carel
, D. Hohl
, J. A. McGrath
, A. Vahlquist
, M. Hellstrom-Pigg
, A. Ganemo
, K. Metcalfe
, C. A. Mein
, E. A. O'Toole
, D. P. Kelsell

Department of Dermatology

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

30 Citations (Scopus)

Original language	English
Pages (from-to)	611-613
Number of pages	3
Journal	British Journal of Dermatology
Volume	158
Issue number	3
DOIs	https://doi.org/10.1111/j.1365-2133.2007.08277.x
Publication status	Published - 2008 Mar

All Science Journal Classification (ASJC) codes

Dermatology

Access to Document

10.1111/j.1365-2133.2007.08277.x

Cite this

Thomas, A. C., Sinclair, C., Mahmud, N., Cullup, T., Mellerio, J. E., Harper, J., Dale, B. A., Turc-Carel, C., Hohl, D., McGrath, J. A., Vahlquist, A., Hellstrom-Pigg, M., Ganemo, A., Metcalfe, K., Mein, C. A., O'Toole, E. A., & Kelsell, D. P. (2008). Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: Implications for prenatal diagnosis. British Journal of Dermatology, 158(3), 611-613. https://doi.org/10.1111/j.1365-2133.2007.08277.x

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author = "Thomas, \{A. C.\} and C. Sinclair and N. Mahmud and T. Cullup and Mellerio, \{J. E.\} and J. Harper and Dale, \{B. A.\} and C. Turc-Carel and D. Hohl and McGrath, \{J. A.\} and A. Vahlquist and M. Hellstrom-Pigg and A. Ganemo and K. Metcalfe and Mein, \{C. A.\} and O'Toole, \{E. A.\} and Kelsell, \{D. P.\}",

year = "2008",

month = mar,

doi = "10.1111/j.1365-2133.2007.08277.x",

language = "English",

volume = "158",

pages = "611--613",

journal = "British Journal of Dermatology",

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Thomas, AC, Sinclair, C, Mahmud, N, Cullup, T, Mellerio, JE, Harper, J, Dale, BA, Turc-Carel, C, Hohl, D, McGrath, JA, Vahlquist, A, Hellstrom-Pigg, M, Ganemo, A, Metcalfe, K, Mein, CA, O'Toole, EA & Kelsell, DP 2008, 'Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: Implications for prenatal diagnosis', British Journal of Dermatology, vol. 158, no. 3, pp. 611-613. https://doi.org/10.1111/j.1365-2133.2007.08277.x

TY - JOUR

T1 - Novel and recurring ABCA12 mutations associated with harlequin ichthyosis

T2 - Implications for prenatal diagnosis

AU - Thomas, A. C.

AU - Sinclair, C.

AU - Mahmud, N.

AU - Cullup, T.

AU - Mellerio, J. E.

AU - Harper, J.

AU - Dale, B. A.

AU - Turc-Carel, C.

AU - Hohl, D.

AU - McGrath, J. A.

AU - Vahlquist, A.

AU - Hellstrom-Pigg, M.

AU - Ganemo, A.

AU - Metcalfe, K.

AU - Mein, C. A.

AU - O'Toole, E. A.

AU - Kelsell, D. P.

PY - 2008/3

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DO - 10.1111/j.1365-2133.2007.08277.x

M3 - Article

C2 - 17986308

AN - SCOPUS:39049155962

SN - 0007-0963

VL - 158

SP - 611

EP - 613

JO - British Journal of Dermatology

JF - British Journal of Dermatology

IS - 3

ER -

Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: Implications for prenatal diagnosis

All Science Journal Classification (ASJC) codes

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