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PMID: 2342539 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism.

The New England journal of medicine ·Vol. 322 ·No. 24 ·1990-06-14 ·Pages 1724-8

Spritz RA, Strunk KM, Giebel LB, King RA

Abstract

暂无摘要

MeSH Terms
Adult Albinism/genetics Base Sequence Blotting, Southern DNA/analysis Exons Female Genetic Carrier Screening Genetic Linkage Humans Molecular Sequence Data Mutation Polymerase Chain Reaction Tyrosine/genetics
Chemicals
Tyrosine DNA
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Spritz R A
Department of Medical Genetics, University of Wisconsin, Madison 53706.
Strunk K M
Giebel L B
King R A
Article Info
Journal
The New England journal of medicine
Abbr.
N Engl J Med
ISSN
0028-4793
DOI
10.1056/NEJM199006143222407
Published
1990-06-14
Pages
1724-8
Language
English
Region
United States
NLM ID
0255562
Subset
IM
Grants
NIAMS NIH HHS · AR-39892 · United States
NIGMS NIH HHS · GM-22167 · United States
External Links
PubMed source DOI: 10.1056/NEJM199006143222407 View journal details
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