GenBank-Updates@genbank.bio.net (09/22/90)
LOCUS HUMBRKFAN 80 bp ds-DNA PRI 22-SEP-1990 DEFINITION Human alpha-galactosidase breakpoint region. ACCESSION M36144 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 38 a 12 c 11 g 19 t ORIGIN 1 tctgattata aaactaatgc atgatcattg caaaaaatgt agataaagaa gagcaaaatg 61 aaaataaaga tttcccccca //