Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

J.A. Poulter, M. Al-Araimi, I. Conte, M.M. van Genderen, E. Sheridan, I.M. Carr, D.A. Parry, M. Shires, S. Carrella, J. Bradbury, K. Khan, P. Lakeman, P.I. Sergouniotis, A.R. Webster, A.T. Moore, B. Pal, M.D. Mohamed, A. Venkataramana, V. Ramprasad, R. Shetty & 9 others M. Saktivel, G. Kumaramanickavel, A. Tan, D.A. Mackey, A.W. Hewitt, S. Banfi, M. Ali, C.F. Inglehearn, C. Toomes

Research output: Contribution to journalArticleAcademicpeer-review

Original languageUndefined/Unknown
Pages (from-to)1143-1150
JournalAmerican journal of human genetics
Volume93
Issue number6
DOIs
Publication statusPublished - 2013

Cite this

Poulter, J. A., Al-Araimi, M., Conte, I., van Genderen, M. M., Sheridan, E., Carr, I. M., ... Toomes, C. (2013). Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism. American journal of human genetics, 93(6), 1143-1150. https://doi.org/10.1016/j.ajhg.2013.11.002
Poulter, J.A. ; Al-Araimi, M. ; Conte, I. ; van Genderen, M.M. ; Sheridan, E. ; Carr, I.M. ; Parry, D.A. ; Shires, M. ; Carrella, S. ; Bradbury, J. ; Khan, K. ; Lakeman, P. ; Sergouniotis, P.I. ; Webster, A.R. ; Moore, A.T. ; Pal, B. ; Mohamed, M.D. ; Venkataramana, A. ; Ramprasad, V. ; Shetty, R. ; Saktivel, M. ; Kumaramanickavel, G. ; Tan, A. ; Mackey, D.A. ; Hewitt, A.W. ; Banfi, S. ; Ali, M. ; Inglehearn, C.F. ; Toomes, C. / Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism. In: American journal of human genetics. 2013 ; Vol. 93, No. 6. pp. 1143-1150.
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title = "Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism",
author = "J.A. Poulter and M. Al-Araimi and I. Conte and {van Genderen}, M.M. and E. Sheridan and I.M. Carr and D.A. Parry and M. Shires and S. Carrella and J. Bradbury and K. Khan and P. Lakeman and P.I. Sergouniotis and A.R. Webster and A.T. Moore and B. Pal and M.D. Mohamed and A. Venkataramana and V. Ramprasad and R. Shetty and M. Saktivel and G. Kumaramanickavel and A. Tan and D.A. Mackey and A.W. Hewitt and S. Banfi and M. Ali and C.F. Inglehearn and C. Toomes",
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volume = "93",
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Poulter, JA, Al-Araimi, M, Conte, I, van Genderen, MM, Sheridan, E, Carr, IM, Parry, DA, Shires, M, Carrella, S, Bradbury, J, Khan, K, Lakeman, P, Sergouniotis, PI, Webster, AR, Moore, AT, Pal, B, Mohamed, MD, Venkataramana, A, Ramprasad, V, Shetty, R, Saktivel, M, Kumaramanickavel, G, Tan, A, Mackey, DA, Hewitt, AW, Banfi, S, Ali, M, Inglehearn, CF & Toomes, C 2013, 'Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism' American journal of human genetics, vol. 93, no. 6, pp. 1143-1150. https://doi.org/10.1016/j.ajhg.2013.11.002

Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism. / Poulter, J.A.; Al-Araimi, M.; Conte, I.; van Genderen, M.M.; Sheridan, E.; Carr, I.M.; Parry, D.A.; Shires, M.; Carrella, S.; Bradbury, J.; Khan, K.; Lakeman, P.; Sergouniotis, P.I.; Webster, A.R.; Moore, A.T.; Pal, B.; Mohamed, M.D.; Venkataramana, A.; Ramprasad, V.; Shetty, R.; Saktivel, M.; Kumaramanickavel, G.; Tan, A.; Mackey, D.A.; Hewitt, A.W.; Banfi, S.; Ali, M.; Inglehearn, C.F.; Toomes, C.

In: American journal of human genetics, Vol. 93, No. 6, 2013, p. 1143-1150.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

AU - Poulter, J.A.

AU - Al-Araimi, M.

AU - Conte, I.

AU - van Genderen, M.M.

AU - Sheridan, E.

AU - Carr, I.M.

AU - Parry, D.A.

AU - Shires, M.

AU - Carrella, S.

AU - Bradbury, J.

AU - Khan, K.

AU - Lakeman, P.

AU - Sergouniotis, P.I.

AU - Webster, A.R.

AU - Moore, A.T.

AU - Pal, B.

AU - Mohamed, M.D.

AU - Venkataramana, A.

AU - Ramprasad, V.

AU - Shetty, R.

AU - Saktivel, M.

AU - Kumaramanickavel, G.

AU - Tan, A.

AU - Mackey, D.A.

AU - Hewitt, A.W.

AU - Banfi, S.

AU - Ali, M.

AU - Inglehearn, C.F.

AU - Toomes, C.

PY - 2013

Y1 - 2013

U2 - 10.1016/j.ajhg.2013.11.002

DO - 10.1016/j.ajhg.2013.11.002

M3 - Article

VL - 93

SP - 1143

EP - 1150

JO - American journal of human genetics

JF - American journal of human genetics

SN - 0002-9297

IS - 6

ER -