杂合人类细胞中X连锁高尿酸血症位点的单等位基因表达。 - Suppr

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Single-allele expression at an X-linked hyperuricemia locus in heterozygous human cells.

作者信息

Salzmann J, DeMars R, Benke P

出版信息

Proc Natl Acad Sci U S A. 1968 Jun;60(2):545-52. doi: 10.1073/pnas.60.2.545.

DOI:10.1073/pnas.60.2.545

PMID:5248811

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC225082/

Abstract

摘要

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GENETIC TESTS WITH A SEX-LINKED MARKER: GLUCOSE-6-PHOSPHATE DEHYDROGENASE.

Cold Spring Harb Symp Quant Biol. 1964;29:415-25. doi: 10.1101/sqb.1964.029.01.043.

A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.

Am J Med. 1964 Apr;36:561-70. doi: 10.1016/0002-9343(64)90104-4.

DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS.

Proc Natl Acad Sci U S A. 1963 Sep;50(3):481-5. doi: 10.1073/pnas.50.3.481.

Mammalian X-chromosome action: inactivation limited in spread and region of origin.

Science. 1963 May 31;140(3570):976-8. doi: 10.1126/science.140.3570.976.

Gene action in the X-chromosome of the mouse (Mus musculus L.).

Nature. 1961 Apr 22;190:372-3. doi: 10.1038/190372a0.

Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.

Science. 1967 Mar 31;155(3770):1682-4. doi: 10.1126/science.155.3770.1682.

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