Mutation analysis in 11 French patients with fabry disease

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Guffon, Nathalie ^a   Froissart, Roseline ^a   Chevalier Porst, Françoise ^a   Maire, Irène ^a  

^a HÔPITAL DEBROUSSE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE; DNA;

ADULT; ARTICLE; CLINICAL ARTICLE; FABRY DISEASE; FEMALE; FIBROBLAST; FRANCE; HETEROZYGOTE; HUMAN; HUMAN CELL; LEUKOCYTE; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; AMINO ACID SUBSTITUTION; CHEMISTRY; ENZYMOLOGY; FAMILY HEALTH; GENE DELETION; GENE EXPRESSION REGULATION; GENETICS; HETEROZYGOTE DETECTION; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY;

ADULT; ALPHA-GALACTOSIDASE; AMINO ACID SUBSTITUTION; DNA; DNA MUTATIONAL ANALYSIS; FABRY DISEASE; FAMILY HEALTH; FEMALE; FRANCE; HETEROZYGOTE DETECTION; HUMANS; MALE; MIDDLE AGED; MUTAGENESIS, INSERTIONAL; MUTATION; MUTATION, MISSENSE; SEQUENCE DELETION;

EID: 0031963917     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110190     Document Type: Article

References (9)

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3. Davies JP, Eng CM, Hill JA, Malcom S, MacDermot K, Win-chester B, Desnick RJ (1996) Fabry disease: Fourteen α-ga-lactosidase A mutations in unrelated families from the United Kingdom and other European countries. Eur J Hum Genet 4:219-224.
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8. Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M, Yoshida A, Kuriyama M, Hayashibe H, Sakuraba H, Tanaka H (1995) An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 333:288-293.
9. Yokoi T, Shinoda K, Ohno I, Kato K, Miyawaki T, Taniguchi N (1991) A 3' splice site consensus sequence mutation in the intron 3 of the α-galactosidase A gene in a patient with Fabry disease. Jpn J Human Genet 36:245-250.