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Nomenclature of GM2–gangliosidoses
Author(s) -
Nørby Søren
Publication year - 1980
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1980.tb00157.x
Subject(s) - nomenclature , locus (genetics) , genetics , tay sachs disease , computational biology , medicine , biology , gynecology , zoology , taxonomy (biology) , disease , gene
As a supplement to the recently proposed systematic nomenclature for the genotypes and phenotypes of GM2–gangliosidoses (O'Brien 1978b), it is suggested that guidelines be adopted for the use of eponyms and type designations in connection with this group of sphingolipidoses. The biochemical genetics of the lysosomal β‐hexosaminidase system in man are briefly reviewed, and recommendations are proposed for the use of eponyms and type designations based upon a locus‐oriented framework.