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PMID: 6136913 Published · ppublish English Journal Article Research Support, U.S. Gov't, P.H.S. Review

Hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular basis of the clinical syndromes.

The New England journal of medicine ·Vol. 309 ·No. 15 ·1983-10-13 ·Pages 900-10

Wilson JM, Young AB, Kelley WN

Abstract

暂无摘要

MeSH Terms
Amino Acid Sequence Basal Ganglia/metabolism Brain Chemistry Chromosome Mapping DNA/analysis Female Genes Genetic Variation Gout/enzymology Humans Hypoxanthine Phosphoribosyltransferase/deficiency,genetics Kidney Calculi/enzymology Lesch-Nyhan Syndrome/enzymology,genetics,metabolism Male Mutation Neurotransmitter Agents/metabolism Protein Conformation
Chemicals
Neurotransmitter Agents DNA Hypoxanthine Phosphoribosyltransferase
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Wilson J M
Young A B
Kelley W N
Article Info
Journal
The New England journal of medicine
Abbr.
N Engl J Med
ISSN
0028-4793
DOI
10.1056/NEJM198310133091507
Published
1983-10-13
Pages
900-10
Language
English
Region
United States
NLM ID
0255562
Subset
IM
Grants
NIADDK NIH HHS · R01-AM1905 · United States
External Links
PubMed source DOI: 10.1056/NEJM198310133091507 View journal details
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