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

AC Thomas; C Sinclair; N Mahmud; T Cullup; JE Mellerio; J Harper; BA Dale; C Turc-Carel; D Hohl; JA McGrath; A Vahlquist; M Hellstrom-Pigg; A Ganemo; K Melcalfe; CA Mein; EA O'Toole; DP Kelsell

doi:10.1111/j.1365-2133.2007.08277.x

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

AC Thomas, C Sinclair, N Mahmud, T Cullup, JE Mellerio, J Harper, BA Dale, C Turc-Carel, D Hohl, JA McGrath, A Vahlquist, M Hellstrom-Pigg, A Ganemo, K Melcalfe, CA Mein, EA O'Toole, DP Kelsell

Dermatology

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

27 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 - Mar 2008

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10.1111/j.1365-2133.2007.08277.x

Cite this

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., Melcalfe, 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, 158(3), 611 - 613. https://doi.org/10.1111/j.1365-2133.2007.08277.x

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title = "Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.",

author = "AC Thomas and C Sinclair and N Mahmud and T Cullup and JE Mellerio and J Harper and BA Dale and C Turc-Carel and D Hohl and JA McGrath and A Vahlquist and M Hellstrom-Pigg and A Ganemo and K Melcalfe and CA Mein and EA O'Toole and DP Kelsell",

year = "2008",

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

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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, Melcalfe, 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

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AU - Thomas, AC

AU - Sinclair, C

AU - Mahmud, N

AU - Cullup, T

AU - Mellerio, JE

AU - Harper, J

AU - Dale, BA

AU - Turc-Carel, C

AU - Hohl, D

AU - McGrath, JA

AU - Vahlquist, A

AU - Hellstrom-Pigg, M

AU - Ganemo, A

AU - Melcalfe, K

AU - Mein, CA

AU - O'Toole, EA

AU - Kelsell, DP

PY - 2008/3

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DO - 10.1111/j.1365-2133.2007.08277.x

M3 - Article

SN - 1365-2133

VL - 158

SP - 611

EP - 613

JO - British Journal of Dermatology

JF - British Journal of Dermatology

IS - 3

ER -