(Q40485144)

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The USH1C 216G-->A splice-site mutation results in a 35-base-pair deletion

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scholarly article

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Europe PubMed Central

PubMed publication ID

20 September 2017

The USH1C 216G-->A splice-site mutation results in a 35-base-pair deletion (English)

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Europe PubMed Central

PubMed publication ID

20 September 2017

Bronya J. B. Keats

6

object named as

Bronya Keats

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

author name string

Jennifer Lentz

1

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

Sevtap Savas

2

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

San-San Ng

3

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

Grace Athas

4

1 reference

Europe PubMed Central

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20 September 2017

Prescott Deininger

5

1 reference

Europe PubMed Central

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20 September 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

1 December 2004

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Europe PubMed Central

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20 September 2017

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

116

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Europe PubMed Central

PubMed publication ID

20 September 2017

3

1 reference

Europe PubMed Central

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20 September 2017

225-227

1 reference

Europe PubMed Central

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20 September 2017

https://scigraph.springernature.com/pub.10.1007/s00439-004-1217-4

0 references

Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15578223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15578223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of two genes for Usher syndrome type I to chromosome 11.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15578223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/15578223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure, diversity, and evolution of the 45-bp VNTR in intron 5 of the USH1C gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15578223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

1 reference

https://pubmed.ncbi.nlm.nih.gov/15578223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-004-1217-4

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

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0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

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