Fabry disease: Twenty-two novel mutations in the α-galactosidase a gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes

Journal of Investigative Medicine

Volumn 48, Issue 4, 2000, Pages 227-235

  Ashton Prolla, P ^a   Tong, B ^a   Shabbeer, J ^a   Astrin, K H ^a   Eng, C M ^a   Desnick, R J ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Fabry disease; Lysosomal storage disease; Mutation analysis; Galactosidase A

Indexed keywords

ALPHA GALACTOSIDASE; DINUCLEOTIDE; DNA; GLYCOSPHINGOLIPID;

ADULT; ALLELE; ARTICLE; CLINICAL ARTICLE; FABRY DISEASE; FEMALE; GENE MUTATION; GENETIC CODE; GENETIC LINKAGE; GENOTYPE; HEMIZYGOTE; HETEROZYGOTE DETECTION; HUMAN; INTRON; LYSOSOME STORAGE DISEASE; MALE; MISSENSE MUTATION; PHENOTYPE; PRENATAL DIAGNOSIS; X CHROMOSOME;

EID: 0033786533     PISSN: 17088267     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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