Back to Results
First PageMeta Content
Integral membrane proteins / Connexin / Deafness / GJB2 / Gap junction / GJB6 / Connexon / GJB3 / Chromosome 13 / Biology / Cell biology / Genodermatoses


A Novel Homozygous Mutation in the EC1/EC2 Interaction Domain of the Gap Junction Complex Connexon 26 Leads to Profound Hearing Impairment
Add to Reading List

Open Document

File Size: 1,49 MB

Share Result on Facebook

City

Sydney / Article / /

Company

C. Ambrosi A. E. / P. V. Mhaske N. A. / Qiagen / New England Journal / Creative Commons / Cochlear Ltd. / Amersham Biosciences / Hindawi Publishing Corporation / /

Country

Australia / /

/

Event

Product Issues / /

Facility

University Medical Center Freiburg / University of Freiburg / E2 complex / /

IndustryTerm

sequence alignment tools / prediction tools / Online Mendelian Inheritance / predication tool / variable carrier rates / literature search / chemical factors / /

MedicalCondition

prelingual non-syndromal hearing impairment / nonsyndromal severe hearing impairment / serious non-syndromal hearing impairment / prelingual deafness / progressive sensorineural hearing loss / suspected congenital deafness / non-syndromal prelingual inner-ear hearing impairment / inherited diseases / nonsyndromal hearing impairment / prelingual sensorineural hearing impairment / nonsyndromic hearing loss / http /

MedicalTreatment

Head and Neck Surgery / /

NaturalFeature

Cell/cell channel / /

Organization

Susan Arndt Department of Otorhinolaryngology / Ethics Committee / University of Freiburg / /

Person

Otorhinolaryngology / Susan Arndt / Nicola Prera / Roland Laszig / Ralf Birkenhäger / Antje Aschendorff / S. Weis / Ralf Birkenh¨ager / Brad Upham / V. Dalam´on / V / Ralf Birkenh / /

Position

Walker / Head / Academic Editor / /

Product

variable carrier rates / protein / associated deafness / ethnic stratification / cases / argentinean population / complex genotypes / /

ProvinceOrState

Connecticut / /

PublishedMedium

American Journal of Human Genetics / Current Opinion / British Journal of Dermatology / PLoS ONE / The New England Journal of Medicine / Nucleic Acids Research / European Journal of Human Genetics / Molecular Biology / /

Region

Middle East / /

Technology

php / X-ray / tomography / http / /

URL

http /

SocialTag