Twenty novel mutations in the α-galactosidase a gene causing fabry disease

Molecular Medicine

Volumn 5, Issue 12, 1999, Pages 806-811

  Topaloglu, A K ^a   Ashley, G A ^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

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE; GLYCOSPHINGOLIPID;

ARTICLE; ENZYME DEFICIENCY; FABRY DISEASE; GENE MUTATION; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HUMAN; INBORN ERROR OF METABOLISM; INTRON; PHENOTYPE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; X CHROMOSOME RECESSIVE DISORDER;

EID: 0033276655     PISSN: 10761551     EISSN: None     Source Type: Journal    
DOI: 10.1007/bf03401993     Document Type: Article

References (14)

1. α-galactosidase a deficiency: Fabry disease
2. An atypical variant of Fabry's disease with manifestations confined to the myocardium
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4. Nucleotide sequence of the human α-galactosidase A gene
5. Fabry disease: Twenty-three mutations including sense and anti-sense CpG alterations and identification of a deletion hot-spot in the α-galactosidase A gene
6. Molecular basis of Fabry disease: Mutations and polymorphisms in the human α-galactosidase A gene
7. Fabry disease: Thirty-five mutations in the α-galactosidase A gene in patients with classic and variant phenotypes
8. Identification of point mutations in the α-galactosidase A gene in classical and atypical hemizygotes with Fabry disease
9. Nature and frequency of mutations in the α-galactosidase A gene that cause Fabry disease
10. Fabry disease: Enzymatic diagnosis of hemizygotes and heterozygotes. α-Galactosidase activities in plasma, serum, urine and leukocytes
11. Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24: DXS17, DXS87, DXS287, and α-galactosidase A
12. Fabry disease: Molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1
13. The CpG dinucleotide and human genetic disease