Concepedia

A knock-in mouse model of Pendred syndrome with Slc26a4 L236P mutation

Zongzhuang Wen, Haixia Zhu, Zhenzu Li, Sen Zhang, Aizhen Zhang, Tingting Zhang, Xiaolong Fu, Daqing Sun, Jian Zhang, Jiangang Gao

Biochemical and Biophysical Research Communications · 2019 · 15 citations · 26 references

DOI

Concepts

References

26

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

Lorraine A. Everett, Benjamin Gläser, John C. Beck et al. · Nature Genetics · 1997 · 1.1K citations

, , +4

Association of Unconventional Myosin <i>MYO15</i> Mutations with Human Nonsyndromic Deafness <i>DFNB3</i>

Aihui Wang, Yong Liang, Robert A. Fridell et al. · Science · 1998 · 441 citations

, , +15

Correction of Deafness in <i>shaker-2</i> Mice by an Unconventional Myosin in a BAC Transgene

Frank J. Probst, Robert A. Fridell, Yehoash Raphael et al. · Science · 1998 · 421 citations

, , +17

Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome

L. A. Everett · Human Molecular Genetics · 2001 · 421 citations

, , +16

Origins and frequencies of <i>SLC26A4</i> (<i>PDS</i>) mutations in east and south Asians: global implications for the epidemiology of deafness

Journal of Medical Genetics · 2003 · 322 citations · Full text

, , +14