(Q34455940)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9462751%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9462751%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

6

1 reference

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9 November 2019

Samuel G. Jacobson

11

1 reference

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9 November 2019

author name string

Banerjee P

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9462751%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Kleyn PW

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9462751%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Knowles JA

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9462751%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Lewis CA

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9462751%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Ross BM

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9462751%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Kovats SG

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9462751%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Lee JJ

8

1 reference

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9 November 2019

Penchaszadeh GK

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9462751%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Ott J

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9462751%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Gilliam TC

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9462751%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

language of work or name

English

0 references

publication date

1 February 1998

1 reference

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9 November 2019

1 reference

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9 November 2019

volume

18

1 reference

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9 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9462751%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

page(s)

177-179

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9462751%20AND%20SRC:MED&resulttype=core&format=json

Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-177

A candidate gene for the mouse mutation tubby

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-177

Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-177

Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with Retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-177

Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-177

7 January 2021

Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3.

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-177

7 January 2021

Cochlear and retinal degeneration in the tubby mouse

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-177

7 January 2021

Exclusion of the involvement of all known retinitis pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8).

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-177

7 January 2021

Molecular genetics of retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-177

7 January 2021

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-177

7 January 2021

New mutation in the 3'-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-177

7 January 2021

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-177

7 January 2021