A Novel mutation (E358K) in the α-galactosidase a gene detected in a japanese family with fabry disease

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Miyazaki, Takashi ^a   Kajita, Mitsuharu ^b   Ohmori, Sachiko ^a   Mizutani, Naoki ^c   Niwa, Toshimitsu ^b   Murata, Yoshiharu ^a   Seo, Hisao ^a  

^a NAGOYA UNIVERSITY   (Japan)

^b NAGOYA UNIVERSITY HOSPITAL   (Japan)

^c Aihoku Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; EXON; FABRY DISEASE; FAMILIAL DISEASE; GENE LOCATION; GENE MUTATION; HEMANGIOKERATOMA; HUMAN; JAPAN; LEG PAIN; MALE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; X CHROMOSOME LINKAGE; X CHROMOSOME RECESSIVE INHERITANCE; ADOLESCENT; AMINO ACID SUBSTITUTION; CHEMISTRY; ENZYMOLOGY; FAMILY HEALTH; FEMALE; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; POINT MUTATION;

ALPHA GALACTOSIDASE; DNA; GLUTAMIC ACID; LYSINE;

ADOLESCENT; ADULT; ALPHA-GALACTOSIDASE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; FABRY DISEASE; FAMILY HEALTH; FEMALE; GLUTAMIC ACID; HUMANS; JAPAN; LYSINE; MALE; MUTATION; PEDIGREE; POINT MUTATION;

EID: 0031965105     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110147     Document Type: Article

References (5)

1. Bishop DF, Calhoun DH, Bernstein HS, Hantzopoulos P, Quinn M, Desnick RJ (1986) Human alpha-galactosidase A: Nucleotide sequence of a cDNA clone encoding the mature enzyme. Proc Natl Acad Sci USA 83:4859-4863.
2. Desnick RJ, Ioannou YA, Eng CM (1995) oc-Galactosidase A deficiency: Fabry disease. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Basis of Inherited Disease. 7th Ed. New York: McGraw-Hill, pp 2741-2784.
3. Eng CM, Desnick RJ (1994) Molecular basis of Fabry disease: Mutations and polymorphisms in the human (X-galactosidase A gene. Hum Mutat 3:103-111.
4. Kornreich R, Desnick RJ, Bishop DF (1989) Nucleotide sequence of the human alpha-galactosidase A gene. Nucleic Acids Res 17:3301-3302.
5. Miyazaki T, Niwa T, Sato M, Kambe F, Maeda K, Seo H (1994) Plasma interleukin 8 levels are increased by hemodialysis. Blood Purif 12:135-140.