Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses.
Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses.
复制标题
DOI：
10.1016/s0140-6736(72)91159-2
复制
发表时间：
1972-05
期刊：
影响因子：
168.9
通讯作者：
V. McKusick;V. McKusick;I. Hussels;I. Hussels;R. Howell;R. Howell;E. Neufeld;E. Neufeld;R. Stevenson;R. Stevenson
中科院分区：
文献类型：
--
作者：
V. McKusick;V. McKusick;I. Hussels;I. Hussels;R. Howell;R. Howell;E. Neufeld;E. Neufeld;R. Stevenson;R. Stevenson
细胞研究的基础上，它提出了显着不同的赫尔勒和Scheie综合征的基因是等位基因，和遗传化合物的赫尔勒和Scheie基因的发生，呈现中间表型。两种临床上不同形式的X-连锁粘多糖沉积症（亨特氏综合征）可能是由等位基因决定的。一个案件也提出了这可能是一个等位基因形式的Maroteaux-Lamy综合征或遗传化合物。
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.