Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

KV Towns; A Kipioti; V Long; M Mckibbin; C Maubaret; V Vaclavik; P Ehsani; K Springell; M Kamal; RS Ramesar; David Mackey; AT Moore; R Mukhopadhyay; AR Webster; GC Black; J O'Sullivan; SS Bhattacharya; EA Pierce; J Beggs; CF Inglehearn

doi:10.1002/humu.21236

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

KV Towns, A Kipioti, V Long, M Mckibbin, C Maubaret, V Vaclavik, P Ehsani, K Springell, M Kamal, RS Ramesar, David Mackey, AT Moore, R Mukhopadhyay, AR Webster, GC Black, J O'Sullivan, SS Bhattacharya, EA Pierce, J Beggs, CF Inglehearn

Centre for Ophthalmology and Visual Science (affiliated with the Lions Eye Institute)

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

35 Citations (Scopus)

Original language	English
Pages (from-to)	E1361-1376
Journal	Human Mutation
Volume	31
DOIs	https://doi.org/10.1002/humu.21236
Publication status	Published - 2010

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10.1002/humu.21236

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Towns, KV., Kipioti, A., Long, V., Mckibbin, M., Maubaret, C., Vaclavik, V., Ehsani, P., Springell, K., Kamal, M., Ramesar, RS., Mackey, D., Moore, AT., Mukhopadhyay, R., Webster, AR., Black, GC., O'Sullivan, J., Bhattacharya, SS., Pierce, EA., Beggs, J., & Inglehearn, CF. (2010). Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes. Human Mutation, 31, E1361-1376. https://doi.org/10.1002/humu.21236

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title = "Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes",

author = "KV Towns and A Kipioti and V Long and M Mckibbin and C Maubaret and V Vaclavik and P Ehsani and K Springell and M Kamal and RS Ramesar and David Mackey and AT Moore and R Mukhopadhyay and AR Webster and GC Black and J O'Sullivan and SS Bhattacharya and EA Pierce and J Beggs and CF Inglehearn",

year = "2010",

doi = "10.1002/humu.21236",

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Towns, KV, Kipioti, A, Long, V, Mckibbin, M, Maubaret, C, Vaclavik, V, Ehsani, P, Springell, K, Kamal, M, Ramesar, RS, Mackey, D, Moore, AT, Mukhopadhyay, R, Webster, AR, Black, GC, O'Sullivan, J, Bhattacharya, SS, Pierce, EA, Beggs, J & Inglehearn, CF 2010, 'Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes', Human Mutation, vol. 31, pp. E1361-1376. https://doi.org/10.1002/humu.21236

TY - JOUR

T1 - Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

AU - Towns, KV

AU - Kipioti, A

AU - Long, V

AU - Mckibbin, M

AU - Maubaret, C

AU - Vaclavik, V

AU - Ehsani, P

AU - Springell, K

AU - Kamal, M

AU - Ramesar, RS

AU - Mackey, David

AU - Moore, AT

AU - Mukhopadhyay, R

AU - Webster, AR

AU - Black, GC

AU - O'Sullivan, J

AU - Bhattacharya, SS

AU - Pierce, EA

AU - Beggs, J

AU - Inglehearn, CF

PY - 2010

Y1 - 2010

U2 - 10.1002/humu.21236

DO - 10.1002/humu.21236

M3 - Article

C2 - 20232351

SN - 1059-7794

VL - 31

SP - E1361-1376

JO - Human Mutation

JF - Human Mutation

ER -