Analitico

Analitico

Weston, Michael D.

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa

Abstract: La sindrome di Usher IIA è un danno autosomalo recessivo caratterizzato da sordità neurosensoriale grave e retinite pigmentosa degenerativa. Il gene interessato è mappato nel cromosoma umano 1q41. recentemente sono state individuate mutazioni genetiche nella stessa zona e la USH2A interessa una proteina con peso molecolare 171.5 kD con lamine epidermiche a cui è stato dato il nome di usherin. Gli autori riportano dati degli studi effettuati sulla mutazione rilevata in alcuni casi e sul ...; [read all]

Cover Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa

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Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa / Weston, Michael D.; Eudy, James D.; Fujita, Shigetoshi; Yao, S-F.; Usami, S.; cremers, C.; Greenburg, J.; Ramesar, R.; Msrtini, Alessandro; Moller, C.; Smith, R. J.; Sumegi, J.; Kimberling, William J. - AJHG The American Journal of Human Genetics, 2000, 66, 4 ; pp. 1199-1210

[Fa parte di] The American Journal of Human Genetics AJHG / Fox, Arthur L. 2000, 66, 4 ; pp. 1199-1210

Numbers

ISSN: 0002-9297

Authors

Cremers, Cor W. R. J. - [Author]
Eudy, James D. - [Author]
Fujita, Shigetoshi - [Author]
Greenberg, Jacquie - [Author]
Kimberling, William J. - [Author]
Martini, Alessandro - [Author]
Moller, Claes G. - [Author]
Ramesar, Rajkumar S. - [Author]
Smith, Richard J. H. - [Author]
Sumegi, Janos - [Author]
Usami, Shin-ichi - [Author]
Yao, Su-Fang - [Author]
Weston, Michael D. - [Main author] - [Author]

Publishing location

Chicago - [Place of pubblication]

Editor

University of Chicago Press - [Editor/publisher]

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Tag

Disabilità - Sordocecità / Deafblindness
Età - Adulto / Adulthood
Medicina - Clinico-Sanitario / Clinical-Healthcare
Medicina - Genetica - Genetica / Genetic
Medicina - Processi - Eziologia-Causa / Etiology-Cause
Medicina - Sindromi - Sindrome / Syndrome

Medicina - Sindromi - Sindrome di Usher / Usher Syndrome (Show detail)

Ricerca / Research
Test-Questionario / Questionnaire

Language

English

ID file

24431

Permalink

https://biblioteca.legadelfilodoro.it/?ids=24431

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Genomic Structure and Identification of Novel Mutations in Usherin

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Extend the research of the authors

Cremers, Cor W. R. J.

Eudy, James D.

Fujita, Shigetoshi

Greenberg, Jacquie

Kimberling, William J.

Martini, Alessandro

Moller, Claes G.

Ramesar, Rajkumar S.

Smith, Richard J. H.

Sumegi, Janos

Usami, Shin-ichi

Yao, Su-Fang

Weston, Michael D.

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Cover Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa

Weston, Michael D.

Genomic structure and identification of novel muta...