Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India

Rohit Shetty; Rudy M. M. A. Nuijts; Soumya Ganesh Nanaiah; Venkata Ramana Anandula; Arkasubhra Ghosh; Chaitra Jayadev; Natasha Pahuja; Govindasamy Kumaramanickavel; Jeyabalan Nallathambi

doi:10.1186/s12881-015-0178-x

Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India

Rohit Shetty, Rudy M. M. A. Nuijts, Soumya Ganesh Nanaiah, Venkata Ramana Anandula, Arkasubhra Ghosh, Chaitra Jayadev, Natasha Pahuja, Govindasamy Kumaramanickavel, Jeyabalan Nallathambi

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

3 Citations (Scopus)

Original language	English
Article number	33
Journal	BMC Medical Genetics
Volume	16
DOIs	https://doi.org/10.1186/s12881-015-0178-x
Publication status	Published - 12 May 2015

Keywords

Visual system homeobox gene (VSX1)
Familial keratoconus
Mutation screening
CVC (Chx10/Vsx-1 and ceh-10) domain
In sillico analysis
Missense mutation
Haplotype analysis

Access to Document

10.1186/s12881-015-0178-x

Cite this

Shetty, R., Nuijts, R. M. M. A., Nanaiah, S. G., Anandula, V. R., Ghosh, A., Jayadev, C., Pahuja, N., Kumaramanickavel, G., & Nallathambi, J. (2015). Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India. BMC Medical Genetics, 16, [33]. https://doi.org/10.1186/s12881-015-0178-x

Shetty, Rohit ; Nuijts, Rudy M. M. A. ; Nanaiah, Soumya Ganesh ; Anandula, Venkata Ramana ; Ghosh, Arkasubhra ; Jayadev, Chaitra ; Pahuja, Natasha ; Kumaramanickavel, Govindasamy ; Nallathambi, Jeyabalan. / Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India. In: BMC Medical Genetics. 2015 ; Vol. 16.

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keywords = "Visual system homeobox gene (VSX1), Familial keratoconus, Mutation screening, CVC (Chx10/Vsx-1 and ceh-10) domain, In sillico analysis, Missense mutation, Haplotype analysis",

author = "Rohit Shetty and Nuijts, {Rudy M. M. A.} and Nanaiah, {Soumya Ganesh} and Anandula, {Venkata Ramana} and Arkasubhra Ghosh and Chaitra Jayadev and Natasha Pahuja and Govindasamy Kumaramanickavel and Jeyabalan Nallathambi",

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doi = "10.1186/s12881-015-0178-x",

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Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India. / Shetty, Rohit; Nuijts, Rudy M. M. A.; Nanaiah, Soumya Ganesh; Anandula, Venkata Ramana; Ghosh, Arkasubhra; Jayadev, Chaitra; Pahuja, Natasha; Kumaramanickavel, Govindasamy; Nallathambi, Jeyabalan.

In: BMC Medical Genetics, Vol. 16, 33, 12.05.2015.

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

TY - JOUR

T1 - Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India

AU - Shetty, Rohit

AU - Nuijts, Rudy M. M. A.

AU - Nanaiah, Soumya Ganesh

AU - Anandula, Venkata Ramana

AU - Ghosh, Arkasubhra

AU - Jayadev, Chaitra

AU - Pahuja, Natasha

AU - Kumaramanickavel, Govindasamy

AU - Nallathambi, Jeyabalan

PY - 2015/5/12

Y1 - 2015/5/12

KW - Visual system homeobox gene (VSX1)

KW - Familial keratoconus

KW - Mutation screening

KW - CVC (Chx10/Vsx-1 and ceh-10) domain

KW - In sillico analysis

KW - Missense mutation

KW - Haplotype analysis

U2 - 10.1186/s12881-015-0178-x

DO - 10.1186/s12881-015-0178-x

M3 - Article

VL - 16

JO - BMC Medical Genetics

JF - BMC Medical Genetics

SN - 1471-2350

M1 - 33

ER -