The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46. / Hansen, Lars; Yao, Wenliang; Eiberg, Hans; Funding, Mikkel; Riise, Ruth; Kjær, Klaus Wilbrandt; Hejtmancik, James Fielding; Rosenberg, Thomas.

In: Molecular Vision, Vol. 12, No. 116, 2006, p. 1033-1039.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Hansen, L, Yao, W, Eiberg, H, Funding, M, Riise, R, Kjær, KW, Hejtmancik, JF & Rosenberg, T 2006, 'The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46', Molecular Vision, vol. 12, no. 116, pp. 1033-1039.

APA

Hansen, L., Yao, W., Eiberg, H., Funding, M., Riise, R., Kjær, K. W., Hejtmancik, J. F., & Rosenberg, T. (2006). The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46. Molecular Vision, 12(116), 1033-1039.

Vancouver

Hansen L, Yao W, Eiberg H, Funding M, Riise R, Kjær KW et al. The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46. Molecular Vision. 2006;12(116):1033-1039.

Author

Hansen, Lars ; Yao, Wenliang ; Eiberg, Hans ; Funding, Mikkel ; Riise, Ruth ; Kjær, Klaus Wilbrandt ; Hejtmancik, James Fielding ; Rosenberg, Thomas. / The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46. In: Molecular Vision. 2006 ; Vol. 12, No. 116. pp. 1033-1039.

Bibtex

@article{e2c6ff3070eb11dcbee902004c4f4f50,
title = "The congenital {"}ant-egg{"} cataract phenotype is caused by a missense mutation in connexin46",
abstract = "{"}Ant-egg{"} cataract is a rare, distinct variety of congenital/infantile cataract that was reported in a large Danish family in 1967. This cataract phenotype is characterized by ant-egg-like bodies embedded in the lens in a laminar configuration and is inherited as an autosomal dominant trait. We retrieved the family and performed linkage analysis to determine the disease locus and identify the mutated gene.",
keywords = "Amino Acid Sequence, Base Sequence, Cataract, Connexins, Female, Haplotypes, Humans, Leucine, Lod Score, Male, Molecular Sequence Data, Mutation, Missense, Pedigree, Phenotype, Protein Sorting Signals, Protein Structure, Tertiary, Serine",
author = "Lars Hansen and Wenliang Yao and Hans Eiberg and Mikkel Funding and Ruth Riise and Kj{\ae}r, {Klaus Wilbrandt} and Hejtmancik, {James Fielding} and Thomas Rosenberg",
year = "2006",
language = "English",
volume = "12",
pages = "1033--1039",
journal = "Molecular Vision",
issn = "1090-0535",
publisher = "Molecular Vision",
number = "116",

}

RIS

TY - JOUR

T1 - The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46

AU - Hansen, Lars

AU - Yao, Wenliang

AU - Eiberg, Hans

AU - Funding, Mikkel

AU - Riise, Ruth

AU - Kjær, Klaus Wilbrandt

AU - Hejtmancik, James Fielding

AU - Rosenberg, Thomas

PY - 2006

Y1 - 2006

N2 - "Ant-egg" cataract is a rare, distinct variety of congenital/infantile cataract that was reported in a large Danish family in 1967. This cataract phenotype is characterized by ant-egg-like bodies embedded in the lens in a laminar configuration and is inherited as an autosomal dominant trait. We retrieved the family and performed linkage analysis to determine the disease locus and identify the mutated gene.

AB - "Ant-egg" cataract is a rare, distinct variety of congenital/infantile cataract that was reported in a large Danish family in 1967. This cataract phenotype is characterized by ant-egg-like bodies embedded in the lens in a laminar configuration and is inherited as an autosomal dominant trait. We retrieved the family and performed linkage analysis to determine the disease locus and identify the mutated gene.

KW - Amino Acid Sequence

KW - Base Sequence

KW - Cataract

KW - Connexins

KW - Female

KW - Haplotypes

KW - Humans

KW - Leucine

KW - Lod Score

KW - Male

KW - Molecular Sequence Data

KW - Mutation, Missense

KW - Pedigree

KW - Phenotype

KW - Protein Sorting Signals

KW - Protein Structure, Tertiary

KW - Serine

M3 - Journal article

C2 - 16971895

VL - 12

SP - 1033

EP - 1039

JO - Molecular Vision

JF - Molecular Vision

SN - 1090-0535

IS - 116

ER -

ID: 1201372