(Q79908661)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347810%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

title

Further evidence of autosomal-dominant Leber congenital amaurosis caused by heterozygous CRX mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347810%20AND%20SRC:MED&resulttype=core&format=json

Leber congenital amaurosis

27 December 2019

main subject

1 reference

1 reference

Panfeng Wang

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347810%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Xiangming Guo

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347810%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Qingjiong Zhang

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347810%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

publication date

9 March 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347810%20AND%20SRC:MED&resulttype=core&format=json

Graefe's Archive for Clinical and Experimental Ophthalmology

27 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347810%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

volume

245

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347810%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347810%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

page(s)

1401-1402

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347810%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00417-007-0554-0

27 December 2019

exact match

0 references

cites work

Novel frameshift mutations in CRX associated with Leber congenital amaurosis

1 reference

12 December 2020

Autosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX gene

1 reference

12 December 2020

Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele.

1 reference

12 December 2020

Mutation analysis of 3 genes in patients with Leber congenital amaurosis

1 reference

12 December 2020

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene

1 reference

12 December 2020

A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotype

1 reference

12 December 2020

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

1 reference

12 December 2020

Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis

1 reference

12 December 2020

Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis

1 reference

12 December 2020