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

Ben-Yosef, T.; Wattenhofer, M.; Riazuddin, S.; Ahmed, Z. M.; Scott, Hamish Steele; Kudoh, J.; Shibuya, K.; Antonarakis, Stylianos; Bonne-Tamir, B.; Radhakrishna, U.; Naz, S.; Ahmed, Z M.; Ahmed, Z.; Pandya, A.; Nance, W. E.; Wilcox, E. R.; Friedman, T. B.; Morell, R. J.

doi:10.1136/jmg.38.6.396

Article scientifique

Anglais

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

Contributeurs/tricesBen-Yosef, T.; Wattenhofer, M.; Riazuddin, S.; Ahmed, Z. M.; Scott, Hamish Steele; Kudoh, J.; Shibuya, K.; Antonarakis, Stylianos; Bonne-Tamir, B.; Radhakrishna, U.; Naz, S.; Ahmed, Z M.; Ahmed, Z.; Pandya, A.; Nance, W. E.; Wilcox, E. R.; Friedman, T. B.; Morell, R. J.

Publié dansJournal of medical genetics, vol. 38, no. 6, p. 396-400

Date de publication2001

Mots-clés

Consanguinity
Deafness/ genetics
Family Health
Female
Genes, Recessive
Humans
Male
Membrane Proteins
Mutation, Missense
Neoplasm Proteins
Pedigree
Polymorphism, Single Nucleotide
Serine Endopeptidases/ genetics

Structure d'affiliation

Faculté de médecine / Section de médecine clinique / Département de médecine

Citation (format ISO)

BEN-YOSEF, T. et al. Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. In: Journal of medical genetics, 2001, vol. 38, n° 6, p. 396–400. doi: 10.1136/jmg.38.6.396

Article

Identifiants

PID : unige:8638
DOI : 10.1136/jmg.38.6.396
PMID : 11424922

URL commercialhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734898/pdf/v038p00396.pdf

ISSN du journal0022-2593

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Première validation12/07/2010 11:57:03

Heure de mise à jour14/03/2023 15:50:11

Changement de statut14/03/2023 15:50:11

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

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