The genetic and molecular bases of monogenic disorders affecting proteolytic systems

Journal of Medical Genetics

Volumn 42, Issue 7, 2005, Pages 529-539

  Richard, I ^a  

^a GÉNÉTHON   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC PROTEINASE; CALPAIN; CATHEPSIN; CHYMOTRYPSIN; COMPLEMENT; CYSTEINE PROTEINASE; DISINTEGRIN; MATRIX METALLOPROTEINASE; MEMBRANE METALLOENDOPEPTIDASE; METALLOPROTEINASE; SERINE PROTEINASE; TRYPSIN;

AZOOSPERMIA; BLEEDING DISORDER; BLOOD CLOTTING; CELL FUNCTION; COMPLEMENT DEFICIENCY; CYLINDROMA; DISEASE ASSOCIATION; EHLERS DANLOS SYNDROME; GALACTOSIALIDOSIS; GENE MUTATION; GENETIC DISORDER; HEARING IMPAIRMENT; HEMOPHILIA; HOMEOSTASIS; HUMAN; HYPERCHOLESTEROLEMIA; IMMUNE SYSTEM; KERATOSIS PALMOPLANTARIS; LEARNING DISORDER; MALABSORPTION; MILLER DIEKER SYNDROME; MOLECULAR GENETICS; MONOGENIC DISORDER; NEUTROPENIA; OBESITY; PANCREATITIS; PARKINSON DISEASE; PATHOPHYSIOLOGY; PLEIOTROPY; PRIORITY JOURNAL; PROTEIN DEGRADATION; REVIEW; SPASTIC PARAPLEGIA; THROMBOPHILIA; THROMBOTIC THROMBOCYTOPENIC PURPURA;

EID: 22244453082     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.028118     Document Type: Review

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