Physical mapping and genomic structure of the Lowe syndrome gene OCRL1

Human Genetics

Volumn 99, Issue 2, 1997, Pages 145-150

  Nussbaum, Robert L ^a,b   Orrison, Bonnie M ^a   Jänne, Pasi A ^b   Charnas, Lawrence ^c   Chinault, A Craig ^d  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c NICHD   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CENTROMERE; CHROMOSOME XQ; CONGENITAL CATARACT; EXON; FANCONI RENOTUBULAR SYNDROME; GENE AMPLIFICATION; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENE STRUCTURE; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; HUMAN; KIDNEY PROXIMAL TUBULE; LOWE SYNDROME; MENTAL DEFICIENCY; PRIORITY JOURNAL; SPLICEOSOME; TANDEM REPEAT; TELOMERE;

ANIMALS; BASE SEQUENCE; CHROMOSOME MAPPING; CLONING, MOLECULAR; COSMIDS; DNA; EXONS; FEMALE; HYBRID CELLS; MICE; MOLECULAR SEQUENCE DATA; OCULOCEREBRORENAL SYNDROME; PHOSPHORIC MONOESTER HYDROLASES; PROTEINS; REGULATORY SEQUENCES, NUCLEIC ACID; RNA SPLICING; RNA, MESSENGER; TRANSCRIPTION, GENETIC; X CHROMOSOME;

EID: 0031037076     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050329     Document Type: Article

References (9)

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2. Bird AP (1987) CpG islands as gene markers in the vertebrate nucleus. Trends Genet 3:342-347
3. Charnas LR, Nussbaum RL (1994) The oculocerebrorenal syndrome of Lowe (Lowe syndrome). In: Scriver CR, Beaudet al., Sly WS, Valle D (eds) The metabolic basis of inherited disease, 7th edn. McGraw-Hill, New York
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8. Suchy SF, Olivos-Glander IM, Nussbaum RL (1995) Lowe syndrome, a deficiency of a phosphatidyl inositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus. Hum Mol Genet 4:2245-2250
9. Zhang X, Jefferson AB, Auethavekiat V, Majerus PW (1995) The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase. Proc Natl Acad Sci USA 92: 4853-4856