(Q35194236)

7 August 2017

Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: demonstration of homozygosity (English)

1 reference

congenital stationary night blindness

7 August 2017

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0 references

X-linked congenital stationary night blindness

1 reference

1 reference

Bech-Hansen NT

1

1 reference

PubMed ID

8434607

7 August 2017

Pearce WG

series ordinal

2

1 reference

PubMed ID

8434607

7 August 2017

language of work or name

English

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publication date

1 January 1993

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American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

52

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7 August 2017

71-77

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7 August 2017

1

1 reference

Sex chromatin and gene action in the mammalian X-chromosome

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682096

X-linked congenital stationary night blindness. Review and report of a family with hyperopia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682096

Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682096

Multi-allelic RFLP for M27 beta, an anonymous single copy genomic clone at Xp11.3-Xcen [HGM9 provisional no. DXS255].

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682096

Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682096

Variable expressivity in X-linked congenital stationary night blindness

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682096

PCR detection of existing and new polymorphism at the TIMP locus

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682096

Prenatal diagnosis of ornithine transcarbamylase deficiency with use of DNA polymorphisms

13 July 2018

1 reference

12 December 2020

Development of additional RFLP probes near the locus for Duchenne muscular dystrophy by cosmid cloning of the DXS84 (754) locus

1 reference

12 December 2020

Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp

1 reference

12 December 2020

A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosome

1 reference

12 December 2020

Highly polymorphic (GT)n repeat sequence in intron II of the human MAOB gene

1 reference

12 December 2020

Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7

1 reference

12 December 2020

Affected females in X-linked congenital stationary night blindness

1 reference

12 December 2020

Norrie's disease: delineation of carriers among daughters of obligate carriers by linkage analysis

1 reference

12 December 2020

Identifiers

PMCID

1682096

1 reference

7 August 2017

1 reference

PubMed ID

8434607