Fabry disease: Fourteen α-gaiactosidase a mutations in unrelated families from the United Kingdom and other european countries

European Journal of Human Genetics

Volumn 4, Issue 4, 1996, Pages 219-224

  Davies, Joanna P ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Fabry disease; Lysosomal storage disease; Mutations; SSCP analysis; galactosidase A

Indexed keywords

ALPHA GALACTOSIDASE;

ARTICLE; CLINICAL ARTICLE; DNA SEQUENCE; EUROPE; FABRY DISEASE; GENE AMPLIFICATION; GENE DELETION; HETEROZYGOTE DETECTION; HUMAN; INTRON; MISSENSE MUTATION; NONSENSE MUTATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; UNITED KINGDOM;

ALPHA-GALACTOSIDASE; FABRY DISEASE; FEMALE; GERMANY; GREAT BRITAIN; HETEROZYGOTE; HUMANS; IRELAND; MALE; MIDDLE AGED; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA; SLOVENIA;

EID: 0029834345     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000472202     Document Type: Article

References (2)

1. Desnick RJ, Ioannou Y, Eng CM: Fabry disease: α-Galactosidase A deficiency; in Scriver C, Beaudet A, Sly W, Valle D (eds): The Metabolie and Molecular Bases of Inherited Disease, cd 7. New York, McGraw Hill, 1995, pp 2741-2784.
2. Desnick RJ, Eng CM: Fabry disease: α-Galactosidase A deficiency; in Fitzpatrick TB, Eisen AZ, Wolff K, Freedberg KM, Autin KF (eds): Dermatology in General Medicine, ed 4. New-York, McGraw Hill, 1989, pp 1916-1977.