A sensitive mutation screening strategy for Fabry disease: Detection of nine mutations in the α-galactosidase A gene

Human Mutation

Volumn 8, Issue 1, 1996, Pages 38-43

  Blanch, Lianne C ^a   Meaney, Cathy ^a   Phillip Morris, C ^a  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

Fabry disease; Genotype phenotype correlation; Human galactosidase; Mutation screening strategy; Single strand conformation polymorphism; X linked disease

Indexed keywords

ALPHA GALACTOSIDASE;

ADULT; ARTICLE; CLINICAL ARTICLE; FABRY DISEASE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE DETECTION; HUMAN; LYSOSOME STORAGE DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME RECESSIVE DISORDER;

ADULT; ALPHA-GALACTOSIDASE; CHILD; FABRY DISEASE; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; MUTATION; X CHROMOSOME;

EID: 0029950717     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:1<38::AID-HUMU5>3.0.CO;2-L     Document Type: Article

References (12)

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