Novel causative mutations in patients with Nance-Horan Syndrome and altered localization of the mutant NHS-A protein isoform

Shiwani Sharma; Kathryn Burdon; Alpana Dave; Robyn Jamieson; Yuval Yaron; Frank Billson; Lionel Maldergem; Birgit Lorenz; Jozef Gecz; Jamie Craig

Novel causative mutations in patients with Nance-Horan Syndrome and altered localization of the mutant NHS-A protein isoform

Shiwani Sharma, Kathryn Burdon, Alpana Dave, Robyn Jamieson, Yuval Yaron, Frank Billson, Lionel Maldergem, Birgit Lorenz, Jozef Gecz, Jamie Craig

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

24 Citations (Scopus)

Original language	English
Pages (from-to)	1856-1864
Number of pages	9
Journal	Molecular Vision
Volume	14
Publication status	Published - 2008

Cite this

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title = "Novel causative mutations in patients with Nance-Horan Syndrome and altered localization of the mutant NHS-A protein isoform",

author = "Shiwani Sharma and Kathryn Burdon and Alpana Dave and Robyn Jamieson and Yuval Yaron and Frank Billson and Lionel Maldergem and Birgit Lorenz and Jozef Gecz and Jamie Craig",

year = "2008",

language = "English",

volume = "14",

pages = "1856--1864",

journal = "Molecular Vision",

issn = "1090-0535",

publisher = "MOLECULAR VISION",

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Novel causative mutations in patients with Nance-Horan Syndrome and altered localization of the mutant NHS-A protein isoform. / Sharma, Shiwani; Burdon, Kathryn; Dave, Alpana; Jamieson, Robyn; Yaron, Yuval; Billson, Frank; Maldergem, Lionel; Lorenz, Birgit; Gecz, Jozef; Craig, Jamie.

In: Molecular Vision, Vol. 14, 2008, p. 1856-1864.

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

TY - JOUR

T1 - Novel causative mutations in patients with Nance-Horan Syndrome and altered localization of the mutant NHS-A protein isoform

AU - Sharma, Shiwani

AU - Burdon, Kathryn

AU - Dave, Alpana

AU - Jamieson, Robyn

AU - Yaron, Yuval

AU - Billson, Frank

AU - Maldergem, Lionel

AU - Lorenz, Birgit

AU - Gecz, Jozef

AU - Craig, Jamie

PY - 2008

Y1 - 2008

UR - http://www.molvis.org/molvis/v14/a220

UR - http://www.molvis.org/molvis/v14/a220/

M3 - Article

VL - 14

SP - 1856

EP - 1864

JO - Molecular Vision

JF - Molecular Vision

SN - 1090-0535

ER -

Novel causative mutations in patients with Nance-Horan Syndrome and altered localization of the mutant NHS-A protein isoform

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Cite this