GenBank-Updates@genbank.bio.net (09/22/90)
LOCUS HUMBRKFAE 80 bp ds-DNA PRI 22-SEP-1990
DEFINITION Human alpha-galactosidase breakpoint region.
ACCESSION M36135
KEYWORDS Fabry disease; breakpoint junction; glycosphingolipid catabolism.
SOURCE Human DNA.
ORGANISM Homo sapiens
Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia;
Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE 1 (bases 1 to 80)
AUTHORS Kornreich,R., Bishop,D.F. and Desnick,R.J.
TITLE Alpha-galactosidase A gene rearrangements causing Fabry disease:
Identification of short direct repeats at breakpoints in an
Alu-rich gene
JOURNAL J. Biol. Chem. 265, 9319-9326 (1990)
STANDARD simple staff_entry
COMMENT
FEATURES from to/span description
BASE COUNT 10 a 29 c 22 g 19 t
ORIGIN
1 ggctggaggg cagtggtgcg atctcggctc actgcaagct ccacctcctg ggttcatgcc
61 attctcctgc ctcagcctcc
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