(Q34478113)

2 August 2017

title

Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles (English)

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congenital fibrosis of the extraocular muscles

2 August 2017

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3

Toshio Maruo

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2 August 2017

Satoko Shimizu

1

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2 August 2017

Akira Okinaga

series ordinal

2

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2 August 2017

publication date

1 November 2005

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Japanese Journal of Ophthalmology

2 August 2017

published in

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2 August 2017

volume

49

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2 August 2017

issue

6

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2 August 2017

page(s)

443-447

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Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus

2 August 2017

cites work

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12 December 2020

CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3.

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12 December 2020

Congenital fibrosis of the extraocular muscles; a report of six cases

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12 December 2020

Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).

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12 December 2020

A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12

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12 December 2020

Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian family

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12 December 2020

CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX

1 reference

12 December 2020

Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2

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12 December 2020

Dynamics of alpha-tubulin deacetylation in intact neurons

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12 December 2020

Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.

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12 December 2020

A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical region

1 reference

12 December 2020

Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12.

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12 December 2020

Novel dendritic kinesin sorting identified by different process targeting of two related kinesins: KIF21A and KIF21B

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12 December 2020

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

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12 December 2020

Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.

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12 December 2020

Generalized fibrosis of the extraocular muscles

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12 December 2020

All kinesin superfamily protein, KIF, genes in mouse and human

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12 December 2020

A novel PHOX2A/ARIX mutation in an iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2)

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12 December 2020

Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles.

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12 December 2020

10.1007/S10384-005-0243-7

Identifiers

DOI

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Dimensions Publication ID

2 August 2017

1051806024

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