Concepedia

Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

Hamish S. Scott, Jun Kudoh, Marie Wattenhofer‐Donzé, Kazunori Shibuya, Asher Berry, Roman Chrast, Michel Guipponi, Jun Wang, Kazuhiko Kawasaki, Shuichi Asakawa,

Nature Genetics · 2001 · 234 citations · 21 references

DOI

Concepts

References

21

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis · Human Mutation · 2000 · 1.8K citations · Full text

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The DNA sequence of human chromosome 21

Masahira Hattori, Asao Fujiyama, Todd D. Taylor et al. · Nature · 2000 · 1.5K citations · Full text

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[2] Families of serine peptidases

Neil D. Rawlings, A. John Barrett · Methods in enzymology on CD-ROM/Methods in enzymology · 1994 · 634 citations · Full text

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Cloning of the TMPRSS2 Gene, Which Encodes a Novel Serine Protease with Transmembrane, LDLRA, and SRCR Domains and Maps to 21q22.3

Ariane Paoloni‐Giacobino, Haiming Chen, Manuel C. Peitsch et al. · Genomics · 1997 · 276 citations

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Autosomal Recessive Non-Syndromic Deafness Locus (DFNB8) Maps on Chromosome 21Q22 in a Large Consanguineous Kindred from Pakistan

Andres Veske, Ralph Oehlmann, Farah Younus et al. · Human Molecular Genetics · 1996 · 143 citations

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