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335-base deletion in the mRNA coding for a dibasic amino acid transporter-like protein (SLC3A1) isolated from a patient with cystinuriaNo abstract available
Document ID
20040172800
Acquisition Source
Legacy CDMS
Document Type
Reprint (Version printed in journal)
Authors
Gitomer, W. L.
(University of Texas Southwestern Medical Center at Dallas 75235-8885, United States)
Reed, B. Y.
Ruml, L. A.
Pak, C. Y.
Date Acquired
August 22, 2013
Publication Date
January 1, 1998
Publication Information
Publication: Human mutation
Volume: Suppl 1
ISSN: 1059-7794
Subject Category
Life Sciences (General)
Report/Patent Number
ISSN: 1059-7794
Funding Number(s)
CONTRACT_GRANT: M01-RR00633
CONTRACT_GRANT: P01-DK20543
Distribution Limits
Public
Copyright
Other
Keywords
Case Reports
Non-NASA Center
NASA Discipline Regulatory Physiology
Carrier Proteins/genetics
RNA, Messenger/genetics
Cystinuria/genetics
Membrane Glycoproteins/genetics
Frameshift Mutation
Molecular Sequence Data
Base Sequence
Sequence Deletion
Mutation
Female
Support, Non-U.S. Gov't
Adult
Human
DNA, Complementary/chemistry/genetics
DNA Mutational Analysis
Support, U.S. Gov't, P.H.S

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