GenBank-Updates@genbank.bio.net (09/22/90)
LOCUS HUMBRKFAL 80 bp ds-DNA PRI 22-SEP-1990
DEFINITION Human alpha-galactosidase breakpoint region.
ACCESSION M36142
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 27 a 14 c 18 g 21 t
ORIGIN
1 catcaatcag gaccccttgg gcaagcaagg gtaccagctt agacaggtaa ataagagtat
61 atattttaag atggctttat
//