Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency

Human Mutation

Volumn 23, Issue 6, 2004, Pages 576-581

  Cosma, Maria Pia ^a   Pepe, Stefano ^a   Parenti, Giancarlo ^b   Settembre, Carmine ^a   Annunziata, Ida ^a,b   Wade Martins, Richard ^c   Di Domenico, Camela ^b   Di Natale, Paola ^b   Mankad, Anuj ^d   Cox, Barbara ^d   Uziel, Graziella ^e   Mancini, Grazia ^f   Zammarchi, Enrico ^g   Donati, Maria Alice ^g   Kleijer, Wim J ^f   Filocamo, Mirella ^h   Carrozzo, Romeo ⁱ   Carella, Massimo ^j   Ballabio, Andrea ^a,b  

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

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e DEPARTMENT OF NEUROSURGERY   (Italy)

^f ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^g UNIVERSITY OF FLORENCE   (Italy)

^h G GASLINI INSTITUTE   (Italy)

ⁱ SAN RAFFAELE HOSPITAL   (Italy)

^j IRCCS   (Italy)

more..

Author keywords

Clinical presentation; MSD; Multiple sulfatase deficiency; Mutation analysis; SUMF1

Indexed keywords

ARYLSULFATASE; SULFATASE;

ANIMAL CELL; ARTICLE; CELL STRAIN COS7; CONTROLLED STUDY; ENZYME ACTIVE SITE; ETHNOLOGY; GENE; GENE DELETION; GENE MUTATION; GENETIC TRANSFECTION; MISSENSE MUTATION; MULTIPLE SULFATASE DEFICIENCY; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PROCESSING; SUMF1 GENE;

ANIMALS; COS CELLS; HUMANS; MUTATION; SPHINGOLIPIDOSES; SULFATASES;

EID: 2642580983     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20040     Document Type: Article

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