A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss.

I. Nagy, M. Horváth, M. Trexler, G. Répássy, L. Patthy

Research output: Contribution to journalArticle

31 Citations (Scopus)
Original languageEnglish
JournalJournal of Medical Genetics
Volume41
Issue number1
Publication statusPublished - Jan 2004

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Molecular Sequence Data
Dominant Genes
Molecular Models
Sensorineural Hearing Loss
Sequence Deletion
Protein Folding
Valine
Tertiary Protein Structure
Hearing Loss
Age of Onset
Point Mutation
Amino Acid Sequence
Peptides
Mutation
Proteins

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

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AU - Répássy, G.

AU - Patthy, L.

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