A second family with XLRH displays the mutation S244L in the CLCN5 gene

A common molecular basis for three inherited kidney stone diseases

Sarah E. Lloyd, Simon H. S. Pearce, Simon E. Fisher et al. · Nature · 1996 · 726 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Cloning and Characterization of CLCN5, the Human Kidney Chloride Channel Gene Implicated in Dent Disease (an X-Linked Hereditary Nephrolithiasis)

Simon E. Fisher, INGE VANBAKEL, Sarah E. Lloyd et al. · Genomics · 1995 · 153 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis).

Simon E. Fisher, Graeme C. Black, Sarah E. Lloyd et al. · PubMed · 1994 · 149 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17

Genetic Mapping in the Xp11.2Region of a New Form of X-LinkedHypophosphatemic Rickets

Alessandra Bolino, Marcella Devoto, Jean Weissenbach et al. · European Journal of Human Genetics · 1993 · 77 citations

Life Sciences, Genetics, Molecular Genetics +8