First report of prenatal biochemical diagnosis of Lowe syndrome

Prenatal Diagnosis

Volumn 18, Issue 11, 1998, Pages 1117-1121

  Suchy, Sharon F ^a   Lin, Ti ^a   Horwitz, Juli A ^b   O'Brien, William E ^c   Nussbaum, Robert L ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b GENZYME GENETICS   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Amniocentesis; Chorionic villus sampling; Lowe syndrome; Phosphatidylinositol 4,5 bisphosphate 5 phosphatase; Prenatal diagnosis

Indexed keywords

PHOSPHATASE; PHOSPHATIDYLINOSITOL 4,5 BISPHOSPHATE;

AMNIOCENTESIS; AMNION CELL; ARTICLE; CHORION VILLUS SAMPLING; CONTROLLED STUDY; DIAGNOSTIC TEST; FETUS; HUMAN; HUMAN CELL; LOWE SYNDROME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

AMNIOCENTESIS; AMNIOTIC FLUID; BLOTTING, WESTERN; CELLS, CULTURED; CHORIONIC VILLI; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; FEMALE; FIBROBLASTS; HUMANS; LYMPHOCYTES; MALE; MUTATION; OCULOCEREBRORENAL SYNDROME; PHOSPHORIC MONOESTER HYDROLASES; PREGNANCY;

EID: 0031729783     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199811)18:11<1117::AID-PD413>3.0.CO;2-Q     Document Type: Article

References (9)

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5. Nussbaum, R.L., Orrison, B.M., Janne, P.A., Charnas, L., Chinault, C. (1997). Physical mapping and genomic structure of the Lowe syndrome gene OCRL1, Hum. Genet., 99, 145-150.
6. Nussbaum, R.L., Suchy, S.F. (1998). Lowe syndrome. In: Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D. (Eds). Metabolic and Molecular Basis of Inherited Disease, CD-ROM Update, Seventh Edition, New York: McGraw-Hill.
7. Olivos-Glander, I.M., Janne, P.A., Nussbaum, R.L. (1995). The oculocerebrorenal syndrome gene product is a 105 kDa protein localized to the Golgi complex, Am. J. Hum. Genet., 57, 817-823.
8. Suchy, S.F., Olivos-Glander, I.M., Nussbaum, R.L. (1995). Lowe syndrome, a deficiency of a phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus, Hum. Molec. Genet., 4, 2245-2250.
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