ALLELISM, NON-ALLELISM, AND GENETIC COMPOUNDS AMONG THE MUCOPOLYSACCHARIDOSES

Victor A. Mckusick, Irene E. Hussels, R. Rodney Howell, Elizabeth F. Neufeld, Roger E. Stevenson

Research output: Contribution to journalArticlepeer-review

77 Scopus citations

Abstract

On the basis of cellular studies it is proposed that the genes for the strikingly dissimilar Hurler and Scheie syndromes are allelic, and that genetic compounds of the Hurler and Scheie genes occur, presenting an intermediate phenotype. Two clinically distinct forms of X-linked mucopolysaccharidosis (Hunter syndrome) are probably determined by alleles. A case is also presented which may represent either an allelic form of Maroteaux-Lamy syndrome or a genetic compound.

Original languageEnglish (US)
Pages (from-to)993-996
Number of pages4
JournalThe Lancet
Volume299
Issue number7758
DOIs
StatePublished - May 6 1972
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)

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