A common deletion mutation in European patients with Sjogren-Larsson syndrome

Biochemical and Molecular Medicine

Volumn 62, Issue 2, 1997, Pages 178-181

  Rizzo, William B ^a   Carney, Gael ^a   De Laurenzi, Vincenzo ^b  

^a VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

Fatty aldehyde dehydrogenase; Ichthyosis; Mental retardation; Mutation; Sjogren Larsson syndrome

Indexed keywords

ALDEHYDE DEHYDROGENASE;

ADULT; ALLELE; ARTICLE; CLINICAL ARTICLE; DELETION MUTANT; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; ICHTHYOSIS; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; POINT MUTATION; SJOEGREN LARSSON SYNDROME;

EID: 0031405111     PISSN: 10773150     EISSN: None     Source Type: Journal    
DOI: 10.1006/bmme.1997.2640     Document Type: Article

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