Concepedia

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

Philomena Mburu, Mirna Mustapha, Anabel Varela, Dominique Weil, A. Amraoui, Ralph Holme, Andreas Rump, Rachel Hardisty, Stéphane Blanchard, Roney S. Coimbra,

Nature Genetics · 2003 · 342 citations · 32 references

DOI

Concepts

References

32

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

, , +14

The importance of being proline: the interaction of proline‐rich motifs in signaling proteins with their cognate domains

Brian K. Kay, Michael P. Williamson, Marius Sudol · The FASEB Journal · 2000 · 1.2K citations

, , +17

A single protocol to detect transcripts of various types and expression levels in neural tissue and cultured cells: in situ hybridization using digoxigenin-labelled cRNA probes

Nicole Schaeren‐Wiemers, A. Gerfin-Moser · Histochemistry and Cell Biology · 1993 · 1.2K citations

, , +14

A new DNA sequence assembly program

James Bonfield, Kathryn F. Smith, Rodger Staden · Nucleic Acids Research · 1995 · 985 citations · Full text

, , +14

A type VII myosin encoded by the mouse deafness gene shaker-1

Faith Gibson, James Walsh, Philomena Mburu et al. · Nature · 1995 · 682 citations

, , +10