(Q50521873)

English

Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families.

scientific article published in January 1995

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7814011

Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families. (English)

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7814011

1 reference

based on heuristic

inferred from title

author name string

Y Isashiki

1

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7814011

N Ohba

2

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7814011

T Yanagita

3

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7814011

N Hokita

4

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7814011

N Doi

5

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7814011

M Nakagawa

6

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7814011

M Ozawa

7

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7814011

N Kuroda

8

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7814011

publication date

1 January 1995

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7814011

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7814011

95

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7814011

1

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7814011

105-108

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7814011

https://scigraph.springernature.com/pub.10.1007/bf00225085

0 references

Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant

1 reference

https://pubmed.ncbi.nlm.nih.gov/7814011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the candidate gene for Norrie disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7814011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/7814011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of beta-thalassemia in Hungary

1 reference

https://pubmed.ncbi.nlm.nih.gov/7814011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure

1 reference

https://pubmed.ncbi.nlm.nih.gov/7814011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/7814011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation and characterization of a candidate gene for Norrie disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7814011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Norrie's disease. A congenital progressive oculo-acoustico-cerebral degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/7814011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families

1 reference

https://pubmed.ncbi.nlm.nih.gov/7814011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/7814011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins

1 reference

https://pubmed.ncbi.nlm.nih.gov/7814011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation of a candidate gene for Norrie disease by positional cloning

1 reference

https://pubmed.ncbi.nlm.nih.gov/7814011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Demonstration of peripherin/rds mRNA in normal and light-damaged rat retinas by in situ hybridization histochemistry

1 reference

https://pubmed.ncbi.nlm.nih.gov/7814011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7814011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new beta-thalassemia mutation (initiation codon ATG----GTG) found in the Japanese population

1 reference

https://pubmed.ncbi.nlm.nih.gov/7814011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00225085

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7814011

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7814011

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