Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. (Q34602323)

3 August 2017

title

Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. (English)

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3 August 2017

author name string

Ramya Devi Ramachandran

series ordinal

1

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3 August 2017

Vijayalakshmi Perumalsamy

series ordinal

2

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3 August 2017

J Fielding Hejtmancik

series ordinal

3

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3 August 2017

publication date

16 January 2007

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3 August 2017

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3 August 2017

volume

121

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3 August 2017

issue

3-4

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3 August 2017

page(s)

475-482

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Filensin and phakinin form a novel type of beaded intermediate filaments and coassemble de novo in cultured cells

3 August 2017

cites work

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12 December 2020

Gene structure and cDNA sequence identify the beaded filament protein CP49 as a highly divergent type I intermediate filament protein

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12 December 2020

Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene

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12 December 2020

The genetics of childhood cataract

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Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract

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Development- and differentiation-dependent reorganization of intermediate filaments in fiber cells.

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12 December 2020

A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family

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12 December 2020

A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q

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12 December 2020

A gene causing autosomal recessive cataract maps to the short arm of chromosome 3

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12 December 2020

A simple salting out procedure for extracting DNA from human nucleated cells

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12 December 2020

Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families

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12 December 2020

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12 December 2020

A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2

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12 December 2020

Faster sequential genetic linkage computations

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12 December 2020

Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35

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12 December 2020

Important Causes of Visual Impairment in the World Today

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12 December 2020

Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans

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12 December 2020

A perfect message: RNA surveillance and nonsense-mediated decay

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12 December 2020

In vitro assembly properties of mutant and chimeric intermediate filament proteins: insight into the function of sequences in the rod and end domains of IF

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12 December 2020

Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.

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12 December 2020

A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family

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12 December 2020

Targeted deletion of the lens fiber cell-specific intermediate filament protein filensin

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12 December 2020

A nationwide Danish study of 1027 cases of congenital/infantile cataracts: etiological and clinical classifications

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12 December 2020

A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q

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12 December 2020

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

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12 December 2020

Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2

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12 December 2020

Easy calculations of lod scores and genetic risks on small computers

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12 December 2020

A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.

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12 December 2020

The Mr 115 kd fiber cell-specific protein is a component of the lens cytoskeleton

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12 December 2020

A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract

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12 December 2020

Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans

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12 December 2020

Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3)

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12 December 2020

A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts

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12 December 2020

Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts

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12 December 2020

Seeing is believing! The optical properties of the eye lens are dependent upon a functional intermediate filament cytoskeleton

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12 December 2020

CRYBA4, a novel human cataract gene, is also involved in microphthalmia

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12 December 2020

A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

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12 December 2020

Targeted genomic deletion of the lens-specific intermediate filament protein CP49.

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12 December 2020

Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2

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12 December 2020

Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q

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12 December 2020

10.1007/S00439-006-0319-6

Identifiers

DOI

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Dimensions Publication ID

3 August 2017

1008144015

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