Concepedia

Carrier Assessment in Families with Lowe Oculocerebrorenal Syndrome: Novel Mutations in the OCRL1 Gene and Correlation of Direct DNA Diagnosis with Ocular Examination

Wulf Röschinger, Ania C. Muntau, Günther Rudolph, Adelbert A. Roscher, Stefan Kammerer

Molecular Genetics and Metabolism · 2000 · 43 citations · 21 references

DOI

Concepts

References

21

The rate of spontaneous mutation of a human gene

J. B. S. Haldane · Journal of Genetics · 1935 · 524 citations

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The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase

Olivier Attree, Isabelle M. Olivos, Ichiro Okabe et al. · Nature · 1992 · 476 citations

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ORGANIC-ACIDURIA, DECREASED RENAL AMMONIA PRODUCTION, HYDROPHTHALMOS, AND MENTAL RETARDATION<subtitle>A Clinical Entity</subtitle>

Charles U. Lowe · Archives of Pediatrics and Adolescent Medicine · 1952 · 394 citations

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Lowe Syndrome, a deficiency of a phosphatidyl-inositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus

Sharon F. Suchy, Isabelle Olivos‐Glander, Robert L. Nussbaum · Human Molecular Genetics · 1995 · 143 citations

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Spectrum of Mutations in the OCRL1Gene in the Lowe Oculocerebrorenal Syndrome

Ti Lin, Bonnie M. Orrison, Ann-Marie Leahey et al. · The American Journal of Human Genetics · 1997 · 111 citations · Full text

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