Clinical and mutational characterization of three patients with multiple sulfatase deficiency: Report of a new splicing mutation

Molecular Genetics and Metabolism

Volumn 86, Issue 1-2, 2005, Pages 206-211

  Díaz Font, Anna ^a   Santamaría, Raül ^a   Cozar, Mònica ^a   Blanco, Mariana ^b   Chamoles, Néstor ^b   Coll, Maria Josep ^c   Chabás, Amparo ^c   Vilageliu, Lluïsa ^a   Grinberg, Daniel ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

^b Fundación para El Estudio de Las Enfermedades Neurometabó licas ^*  (Argentina)

^c Institut de Bioquimica Clinica Barcelona   (Spain)

Author keywords

Minigene analysis; Multiple sulfatase deficiency; Splicing mutation; SUMF1 gene

Indexed keywords

GUANINE NUCLEOTIDE; PYRIMIDINE NUCLEOTIDE; RNA;

ALLELE; ANALYTIC METHOD; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ETHNIC GROUP; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; INFANT; MALE; MULTIPLE SULFATASE DEFICIENCY; PATIENT; PRIORITY JOURNAL; RNA SPLICING; SAMPLE;

BASE SEQUENCE; CHILD, PRESCHOOL; DNA PRIMERS; FEMALE; HUMANS; INFANT; MALE; MUTATION; POLYMERASE CHAIN REACTION; RNA SPLICING; SPHINGOLIPIDOSES; SULFATASES;

EID: 26244461246     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.07.004     Document Type: Article

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