(Q35665689)

9 August 2017

1 reference

title

Mapping the eye diseases (English)

1 reference

9 August 2017

3

H. Dollfus

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1495766

2 October 2022

author name string

Frézal J

series ordinal

1

1 reference

9 August 2017

J. Frézal

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1495766

2 October 2022

J. Kaplan

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1495766

2 October 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1495766

2 October 2022

publication date

1 June 1992

1 reference

Ophthalmic Paediatrics and Genetics

9 August 2017

published in

1 reference

9 August 2017

volume

13

1 reference

9 August 2017

issue

2

1 reference

9 August 2017

page(s)

37-47

1 reference

At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.

9 August 2017

cites work

1 reference

https://api.crossref.org/works/10.3109%2F13816819209087603

A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819209087603

Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819209087603

Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819209087603

The incidence of rare alleles determining electrophoretic variants: data on 43 enzyme loci in man.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819209087603

Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819209087603

A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819209087603

Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819209087603

A locus for a human hereditary cataract is closely linked to the gamma-crystallin gene family

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819209087603

Autosomal dominant retinitis pigmentosa (ADRP): Localization of an ADRP gene to the long arm of chromosome 3

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819209087603

Deficiencies in sight with the candidate gene approach

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819209087603

10.3109/13816819209087603

21 January 2018

Identifiers

DOI

1 reference

9 August 2017

1 reference