Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome

American Journal of Human Genetics

Volumn 60, Issue 6, 1997, Pages 1384-1388

  Lin, Ti ^a   Orison, Bonnie M ^a   Leahey, Ann Marie ^b   Suchy, Sharon F ^a   Bernard, David J ^a   Lewis, Richard A ^c   Nussbaum, Robert L ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATASE; TRIPHOSPHOINOSITIDE;

AMINO ACID SEQUENCE; ARTICLE; CODON; CONGENITAL CATARACT; DELETION MUTANT; ENZYME ACTIVITY; EXON; FANCONI RENOTUBULAR SYNDROME; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; LOWE SYNDROME; MENTAL DEFICIENCY; NONSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; STRUCTURE ACTIVITY RELATION;

EID: 0030971762     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/515471     Document Type: Article

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