Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease

Human Molecular Genetics

Volumn 5, Issue 10, 1996, Pages 1611-1617

  Pagani, Franco ^a   Garcia, Rodolfo ^a   Pariyarath, Rajalakshmi ^a   Stuani, Cristiana ^a   Gridelli, Bruno ^b   Paone, Giovanni ^b   Baralle, Francisco E ^a  

^a INTERNATIONAL CENTRE FOR GENETIC ENGINEERING AND BIOTECHNOLOGY   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ACID LIPASE; CHOLESTEROL OLEATE; RECOMBINANT PROTEIN; TRIOLEIN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CASE REPORT; CHILD; CHOLESTEROL ESTER STORAGE DISEASE; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; ENZYME ACTIVITY; EXON; GENE EXPRESSION; GENE MUTATION; HELA CELL; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOBLOTTING; MALE; MOLECULAR WEIGHT; NUCLEIC ACID BASE SUBSTITUTION; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN PROCESSING; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SPLICEOSOME;

EID: 0029817498     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.10.1611     Document Type: Article

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