Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.

Human mutation

Volumn 28, Issue 9, 2007, Pages 928-

  Annunziata, Ida ^a   Bouchè, Valentina ^a   Lombardi, Alessia ^a   Settembre, Carmine ^a   Ballabio, Andrea ^a  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

SULFATASE; SUMF1 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ANIMAL; ARTICLE; CELL CULTURE; EMBRYO; GENE EXPRESSION REGULATION; GENETIC TRANSFECTION; GENETICS; HUMAN; METABOLISM; MOUSE; MOUSE MUTANT; MULTIPLE SULFATASE DEFICIENCY; STOP CODON; TISSUE DISTRIBUTION;

ANIMALS; CELLS, CULTURED; CODON, NONSENSE; EMBRYO; GENE EXPRESSION REGULATION, ENZYMOLOGIC; HUMANS; MICE; MICE, KNOCKOUT; MULTIPLE SULFATASE DEFICIENCY DISEASE; SULFATASES; TISSUE DISTRIBUTION; TRANSFECTION;

EID: 34848837976     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9504     Document Type: Article

References (0)