Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients

Molecular Genetics and Metabolism

Volumn 64, Issue 1, 1998, Pages 58-61

  Lin, Ti ^a   Orrison, Bonnie M ^a   Suchy, Sharon F ^a   Lewis, Richard Alan ^b   Nussbaum, Robert L ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATASE; PHOSPHATIDYLINOSITOL 4,5 BISPHOSPHATE;

ARTICLE; ENZYME ACTIVITY; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; HUMAN CELL; LOWE SYNDROME; MALE; MISSENSE MUTATION; PRIORITY JOURNAL;

EID: 0032072943     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1998.2687     Document Type: Article

References (9)

1. Leahey A M, Charnas L R, Nussbaum R L. Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. Hum Mol Genet. 4:1993;461-463.
2. Lin T, Orrison B M, Leahey A M, Suchy S F, Bernard D J, Lewis R A, Nussbaum R L. Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. Am J Hum Genet. 60:1997;1384-1388.
3. Lowe C U, Terry M, MacLachan E A. Organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation: A clinical entity. Am J Dis Child. 83:1952;164-184.
4. Attree O, Olivos I M, Okabe I, Bailey L C, Nelson D L, Lewis R A, McInnes R R, Nussbaum R L. The Lowe oculocerebrorenal syndrome gene encodes a novel protein highly homologous to inositol polyphosphate-5-phosphatase. Nature. 358:1992;239-242.
5. Nussbaum R L, Orrison B M, Janne P A, Charnas L, Chinault A C. Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. Hum Genet. 99:1997;145-150.
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7. Jefferson A B, Majerus P W. Properties of type II inositol polyphosphate 5-phosphatase. J Biol Chem. 270:1995;9370-9377.
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9. Cooper D N, Krawczak M. Human Gene Mutation. 1993;Bios Scientific.