A nonsense mutation (R220X) in the α-galactosidase A gene causes typical Fabry disease in both genders

Clinical Nephrology

Volumn 61, Issue 3, 2004, Pages 185-190

  Maki, N ^a   Komatsuda, A ^a   Wakui, H ^a   Oyama, Y ^b   Kodama, T ^a   Ohtani, H ^a   Kigawa, A ^a   Aiba, N ^a   Imai, H ^a   Motegi, M ^c   Yamaguchi, A ^c   Sawada, K ^a  

^a AKITA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Akita City Hosp   (Japan)

^c Senboku Kumiai General Hospital   (Japan)

Author keywords

Fabry disease; Nonsense mutation (R220X); galactosidase A gene

Indexed keywords

ALPHA GALACTOSIDASE; ARGININE; COMPLEMENTARY DNA; CYTOSINE; LYSOSOME ENZYME; THYMINE;

ADULT; AGED; ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CAUSE OF DEATH; CHRONIC KIDNEY FAILURE; CODON; DNA SEQUENCE; FABRY DISEASE; FEMALE; GENETIC ANALYSIS; HEART DISEASE; HEMIZYGOTE; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; KIDNEY BIOPSY; KIDNEY DISEASE; MALE; MOTHER; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; X CHROMOSOME LINKAGE;

EID: 12144291092     PISSN: 03010430     EISSN: None     Source Type: Journal    
DOI: 10.5414/cnp61185     Document Type: Article

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