(Q40353575)

19 September 2017

Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P. (English)

1 reference

19 September 2017

0 references

1 reference

3

Thomas Illig

1 reference

19 September 2017

2

Norman Klopp

1 reference

19 September 2017

Jochen Graw

1

1 reference

PubMed ID

16453125

19 September 2017

Markus N Preising

series ordinal

4

1 reference

PubMed ID

16453125

19 September 2017

Birgit Lorenz

series ordinal

5

1 reference

19 September 2017

2 February 2006

1 reference

Graefe's Archive for Clinical and Experimental Ophthalmology

19 September 2017

1 reference

19 September 2017

244

1 reference

19 September 2017

8

1 reference

19 September 2017

912-919

1 reference

https://scigraph.springernature.com/pub.10.1007/s00417-005-0234-x

19 September 2017

0 references

cites work

Identification of a missense mutation in the alphaA-crystallin gene of the lop18 mouse.

1 reference

12 December 2020

[Hereditary foveal hypoplasia - clinical differentiation].

1 reference

12 December 2020

High frequency of the Ala481Thr mutation of the P gene in the Japanese population

1 reference

12 December 2020

Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population

1 reference

12 December 2020

Characterization of a new, dominant V124E mutation in the mouse alphaA-crystallin-encoding gene

1 reference

12 December 2020

Genotype/phenotype correlations in aniridia.

1 reference

12 December 2020

Targeted disruption of the mouse alpha A-crystallin gene induces cataract and cytoplasmic inclusion bodies containing the small heat shock protein alpha B-crystallin

1 reference

12 December 2020

Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene.

1 reference

12 December 2020

Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)

1 reference

12 December 2020

Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Insights into the domains required for dimerization and assembly of human alphaB crystallin

1 reference

12 December 2020

Detection of protein-protein interactions among lens crystallins in a mammalian two-hybrid system assay

1 reference

12 December 2020

Low expression of alphaA-crystallins and rhodopsin kinase of photoreceptors in retinal dystrophy rat

1 reference

12 December 2020

Role of the conserved SRLFDQFFG region of alpha-crystallin, a small heat shock protein. Effect on oligomeric size, subunit exchange, and chaperone-like activity

1 reference

12 December 2020

Further genetic heterogeneity for autosomal dominant human sutural cataracts.

1 reference

12 December 2020

Electroretinography as a screening method for mutations causing retinal dysfunction in mice

1 reference

12 December 2020

Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism

1 reference

12 December 2020

Modified alpha A crystallin in the retina: altered expression and truncation with aging

1 reference

12 December 2020

Deletion in the OA1 gene in a family with congenital X linked nystagmus

1 reference

12 December 2020

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

1 reference

12 December 2020

A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned

1 reference

12 December 2020

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

1 reference

12 December 2020

Protein profile of aging and its retardation by caloric restriction in neural retina

1 reference

12 December 2020

Standard for clinical electroretinography (1994 update)

1 reference

12 December 2020

Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)

1 reference

12 December 2020

Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic and allelic heterogeneity of Cryg mutations in eight distinct forms of dominant cataract in the mouse

1 reference

12 December 2020

The Endotoxin Receptor TLR4 Polymorphism Is Not Associated With Diabetes or Components of the Metabolic Syndrome

1 reference

12 December 2020

PAX6 missense mutation in isolated foveal hypoplasia

1 reference

12 December 2020

The gamma-crystallins and human cataracts: a puzzle made clearer

1 reference

12 December 2020

The genetic and molecular basis of congenital eye defects

1 reference

12 December 2020

P gene as an inherited biomarker of human eye color.

1 reference

12 December 2020

10.1007/S00417-005-0234-X

Identifiers

DOI

1 reference

19 September 2017

1 reference

PubMed ID

16453125