Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness [4]

T. Ben-Yosef, M. Wattenhofer, S. Riazuddin, Z. M. Ahmed, H. S. Scott, Jun Kudo, Kazunori Shibuya, S. E. Antonarakis, B. Bonne-Tamir, U. Radhakrishna, S. Naz, Z. Ahmed, S. Riazuddin, A. Pandya, W. E. Nance, E. R. Wilcox, T. B. Friedman, R. J. Morell

Research output: Contribution to journalArticle

43 Citations (Scopus)
Original languageEnglish
Pages (from-to)396-400
Number of pages5
JournalJournal of Medical Genetics
Volume38
Issue number6
Publication statusPublished - 2001
Externally publishedYes

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Neoplasm Proteins
Serine Endopeptidases
Recessive Genes
Consanguinity
Family Health
Deafness
Missense Mutation
Pedigree
Single Nucleotide Polymorphism
Membrane Proteins
Mutation
Enlarged Vestibular Aqueduct

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Ben-Yosef, T., Wattenhofer, M., Riazuddin, S., Ahmed, Z. M., Scott, H. S., Kudo, J., ... Morell, R. J. (2001). Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness [4]. Journal of Medical Genetics, 38(6), 396-400.

Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness [4]. / Ben-Yosef, T.; Wattenhofer, M.; Riazuddin, S.; Ahmed, Z. M.; Scott, H. S.; Kudo, Jun; Shibuya, Kazunori; Antonarakis, S. E.; Bonne-Tamir, B.; Radhakrishna, U.; Naz, S.; Ahmed, Z.; Riazuddin, S.; Pandya, A.; Nance, W. E.; Wilcox, E. R.; Friedman, T. B.; Morell, R. J.

In: Journal of Medical Genetics, Vol. 38, No. 6, 2001, p. 396-400.

Research output: Contribution to journalArticle

Ben-Yosef, T, Wattenhofer, M, Riazuddin, S, Ahmed, ZM, Scott, HS, Kudo, J, Shibuya, K, Antonarakis, SE, Bonne-Tamir, B, Radhakrishna, U, Naz, S, Ahmed, Z, Riazuddin, S, Pandya, A, Nance, WE, Wilcox, ER, Friedman, TB & Morell, RJ 2001, 'Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness [4]', Journal of Medical Genetics, vol. 38, no. 6, pp. 396-400.
Ben-Yosef T, Wattenhofer M, Riazuddin S, Ahmed ZM, Scott HS, Kudo J et al. Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness [4]. Journal of Medical Genetics. 2001;38(6):396-400.
Ben-Yosef, T. ; Wattenhofer, M. ; Riazuddin, S. ; Ahmed, Z. M. ; Scott, H. S. ; Kudo, Jun ; Shibuya, Kazunori ; Antonarakis, S. E. ; Bonne-Tamir, B. ; Radhakrishna, U. ; Naz, S. ; Ahmed, Z. ; Riazuddin, S. ; Pandya, A. ; Nance, W. E. ; Wilcox, E. R. ; Friedman, T. B. ; Morell, R. J. / Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness [4]. In: Journal of Medical Genetics. 2001 ; Vol. 38, No. 6. pp. 396-400.
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author = "T. Ben-Yosef and M. Wattenhofer and S. Riazuddin and Ahmed, {Z. M.} and Scott, {H. S.} and Jun Kudo and Kazunori Shibuya and Antonarakis, {S. E.} and B. Bonne-Tamir and U. Radhakrishna and S. Naz and Z. Ahmed and S. Riazuddin and A. Pandya and Nance, {W. E.} and Wilcox, {E. R.} and Friedman, {T. B.} and Morell, {R. J.}",
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AU - Riazuddin, S.

AU - Ahmed, Z. M.

AU - Scott, H. S.

AU - Kudo, Jun

AU - Shibuya, Kazunori

AU - Antonarakis, S. E.

AU - Bonne-Tamir, B.

AU - Radhakrishna, U.

AU - Naz, S.

AU - Ahmed, Z.

AU - Riazuddin, S.

AU - Pandya, A.

AU - Nance, W. E.

AU - Wilcox, E. R.

AU - Friedman, T. B.

AU - Morell, R. J.

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