Allele-Specific Impairment of GJB2 Expression by GJB6 Deletion del(GJB6-D13S1854)

Juan Rodriguez-Paris; Marta L. Tamayo; Nancy Gelvez; Iris Schrijver

doi:10.1371/journal.pone.0021665

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Open Access

Peer-reviewed

Research Article

Allele-Specific Impairment of GJB2 Expression by GJB6 Deletion del(GJB6-D13S1854)

Juan Rodriguez-Paris,

Affiliation Department of Pathology, Stanford University School of Medicine, Stanford, California, United States of America
⨯
Marta L. Tamayo,

Affiliations Instituto de Genética Humana, Universidad Javeriana, Bogotá, Colombia, Fundación Oftalmológica Nacional, Bogotá, Colombia
⨯
Nancy Gelvez,

Affiliation Instituto de Genética Humana, Universidad Javeriana, Bogotá, Colombia
⨯
Iris Schrijver

* E-mail: ischrijver@stanfordmed.org

Affiliations Department of Pathology, Stanford University School of Medicine, Stanford, California, United States of America, Department of Pediatrics, Stanford University School of Medicine, Stanford, California, United States of America
⨯

Allele-Specific Impairment of GJB2 Expression by GJB6 Deletion del(GJB6-D13S1854)

Juan Rodriguez-Paris,
Marta L. Tamayo,
Nancy Gelvez,
Iris Schrijver

Published: June 29, 2011
https://doi.org/10.1371/journal.pone.0021665

About the Authors

Juan Rodriguez-Paris

Affiliation Department of Pathology, Stanford University School of Medicine, Stanford, California, United States of America

Marta L. Tamayo

Affiliations Instituto de Genética Humana, Universidad Javeriana, Bogotá, Colombia, Fundación Oftalmológica Nacional, Bogotá, Colombia

Nancy Gelvez

Affiliation Instituto de Genética Humana, Universidad Javeriana, Bogotá, Colombia

Iris Schrijver

* E-mail: ischrijver@stanfordmed.org

Affiliations Department of Pathology, Stanford University School of Medicine, Stanford, California, United States of America, Department of Pediatrics, Stanford University School of Medicine, Stanford, California, United States of America

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: JRP IS. Performed the experiments: JRP. Analyzed the data: JRP MLT NG IS. Contributed reagents/materials/analysis tools: MLT NG IS. Wrote the paper: JRP IS.

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Deafness
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Deletion mutation
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Heterozygosity
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Mutation
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Restriction enzyme digestion
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Polymerase chain reaction
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Homozygosity
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Reverse transcriptase-polymerase chain reaction
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