Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins (Q24677934)

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English	Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins	scientific article

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instance of

scholarly article

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title

Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins (English)

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author

Christine Petit

object named as

C Petit

series ordinal

6

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author name string

A Adato

series ordinal

1

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D Weil

series ordinal

2

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H Kalinski

series ordinal

3

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Y Pel-Or

series ordinal

4

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H Ayadi

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5

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M Korostishevsky

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7

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B Bonne-Tamir

series ordinal

8

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language of work or name

English

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publication date

October 1997

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published in

American Journal of Human Genetics

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volume

61

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issue

4

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page(s)

813-21

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cites work

Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients

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PubMed Central

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7 April 2017

Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells

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PubMed Central

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7 April 2017

Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia

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7 April 2017

Defective myosin VIIA gene responsible for Usher syndrome type 1B

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PubMed Central

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7 April 2017

Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B

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PubMed Central

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7 April 2017

Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB

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PubMed Central

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7 April 2017

Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B

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PubMed Central

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7 April 2017

A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews

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PubMed Central

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7 April 2017

A type VII myosin encoded by the mouse deafness gene shaker-1

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PubMed Central

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7 April 2017

Sequence and domain structure of talin

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PubMed Central

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7 April 2017

Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11

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PubMed Central

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7 April 2017

A gene for Usher syndrome type I (USH1A) maps to chromosome 14q

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PubMed Central

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7 April 2017

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

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PubMed Central

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7 April 2017

A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.

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PubMed Central

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28 September 2017

Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.

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PubMed Central

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28 September 2017

Phylogenetic analysis of the myosin superfamily.

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PubMed Central

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28 September 2017

Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy

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PubMed Central

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28 September 2017

Clinical variability and genetic heterogeneity within the Acadian Usher population

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PubMed Central

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28 September 2017

Structural diversity of band 4.1 superfamily members.

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PubMed Central

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28 September 2017

Usher syndrome: an otoneurologic study

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PubMed Central

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30 May 2018

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

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PubMed Central

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30 May 2018

Unconventional myosins: new frontiers in actin-based motors

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PubMed Central

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28 November 2018

Identification of a new mutation of the myosin VII head region in Usher syndrome type 1.

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PubMed Central

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28 November 2018

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

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PubMed Central

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28 November 2018

Genetic mapping of the gene for Usher syndrome: linkage analysis in a large Samaritan kindred

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PubMed Central

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28 November 2018

Regulation of calmodulin-binding myosins

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9382091

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1086/514899

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3058317

OpenCitations bibliographic resource ID

3058317

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3058317

PMC publication ID

1716000

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3058317

PubMed publication ID

9382091

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3058317

ResearchGate publication ID

13848086

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