Fabry disease: Thirty-five mutations in the α-galactosidase a gene in patients with classic and variant phenotypes

Molecular Medicine

Volumn 3, Issue 3, 1997, Pages 174-182

  Eng, Christine M ^a,b   Ashley, Grace A ^a   Burgert, Tania S ^a   Enriquez, Annette L ^a   D'Souza, Marcus ^a   Desnick, Robert J ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b Box 1498 ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; FABRY DISEASE; GENE LOCATION; GENETIC ANALYSIS; GENETIC SUSCEPTIBILITY; HETEROZYGOTE DETECTION; HUMAN; INBORN ERROR OF METABOLISM; MISSENSE MUTATION; NONSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

EID: 0030926514     PISSN: 10761551     EISSN: None     Source Type: Journal    
DOI: 10.1007/bf03401671     Document Type: Article

References (28)

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