Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma

Saima Aijaz; Brian J Clark; Kathleen Williamson; Veronica van Heyningen; Danny Morrison; David Fitzpatrick; Richard Collin; Nicola Ragge; Andrea Christoforou; Alison Brown; Isabel Hanson

doi:10.1167/iovs.04-0641

Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma

Saima Aijaz, Brian J Clark, Kathleen Williamson, Veronica van Heyningen, Danny Morrison, David Fitzpatrick, Richard Collin, Nicola Ragge, Andrea Christoforou, Alison Brown, Isabel Hanson

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

Abstract / Description of output

To investigate whether 173 patients with microphthalmia, anophthalmia, and coloboma have mutations in the eye-development gene SIX6.

Original language	English
Pages (from-to)	3871-6
Number of pages	6
Journal	Investigative Ophthalmology & Visual Science (IOVS)
Volume	45
Issue number	11
DOIs	https://doi.org/10.1167/iovs.04-0641
Publication status	Published - Nov 2004

Keywords / Materials (for Non-textual outputs)

Adult
Anophthalmos
Chromatography, High Pressure Liquid
Coloboma
DNA Mutational Analysis
Exons
Eye Proteins
Gene Amplification
Homeodomain Proteins
Humans
Microphthalmos
Mutation
Polymerase Chain Reaction
Polymorphism, Genetic
Sequence Analysis, DNA
Trans-Activators

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10.1167/iovs.04-0641

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@article{b319bb5e22a6404bb6d8f16e72cae1c6,

title = "Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma",

abstract = "To investigate whether 173 patients with microphthalmia, anophthalmia, and coloboma have mutations in the eye-development gene SIX6.",

keywords = "Adult, Anophthalmos, Chromatography, High Pressure Liquid, Coloboma, DNA Mutational Analysis, Exons, Eye Proteins, Gene Amplification, Homeodomain Proteins, Humans, Microphthalmos, Mutation, Polymerase Chain Reaction, Polymorphism, Genetic, Sequence Analysis, DNA, Trans-Activators",

author = "Saima Aijaz and Clark, {Brian J} and Kathleen Williamson and {van Heyningen}, Veronica and Danny Morrison and David Fitzpatrick and Richard Collin and Nicola Ragge and Andrea Christoforou and Alison Brown and Isabel Hanson",

year = "2004",

month = nov,

doi = "10.1167/iovs.04-0641",

language = "English",

volume = "45",

pages = "3871--6",

journal = "Investigative Ophthalmology & Visual Science (IOVS)",

issn = "0146-0404",

publisher = "The Association for Research in Vision and Ophthalmology",

number = "11",

}

TY - JOUR

T1 - Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma

AU - Aijaz, Saima

AU - Clark, Brian J

AU - Williamson, Kathleen

AU - van Heyningen, Veronica

AU - Morrison, Danny

AU - Fitzpatrick, David

AU - Collin, Richard

AU - Ragge, Nicola

AU - Christoforou, Andrea

AU - Brown, Alison

AU - Hanson, Isabel

PY - 2004/11

Y1 - 2004/11

N2 - To investigate whether 173 patients with microphthalmia, anophthalmia, and coloboma have mutations in the eye-development gene SIX6.

AB - To investigate whether 173 patients with microphthalmia, anophthalmia, and coloboma have mutations in the eye-development gene SIX6.

KW - Adult

KW - Anophthalmos

KW - Chromatography, High Pressure Liquid

KW - Coloboma

KW - DNA Mutational Analysis

KW - Exons

KW - Eye Proteins

KW - Gene Amplification

KW - Homeodomain Proteins

KW - Humans

KW - Microphthalmos

KW - Mutation

KW - Polymerase Chain Reaction

KW - Polymorphism, Genetic

KW - Sequence Analysis, DNA

KW - Trans-Activators

U2 - 10.1167/iovs.04-0641

DO - 10.1167/iovs.04-0641

M3 - Article

C2 - 15505031

SN - 0146-0404

VL - 45

SP - 3871

EP - 3876

JO - Investigative Ophthalmology & Visual Science (IOVS)

JF - Investigative Ophthalmology & Visual Science (IOVS)

IS - 11

ER -

Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma

Abstract / Description of output

Keywords / Materials (for Non-textual outputs)

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