335'Base deletion in the mRNA coding for a dibasic aniino acid transporteivlike protein (SLC3A1) isolated from a patient with cystinuria

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Gitomer, William L ^a   Reed, Berenice Y ^a   Ruml, Lisa A ^a   Pak, Charles Y C ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; COMPLEMENTARY DNA; MESSENGER RNA; AMINO ACID TRANSPORTER; MEMBRANE PROTEIN; SLC7A9 PROTEIN, HUMAN;

ADULT; ARTICLE; CASE REPORT; CYSTINURIA; DELETION MUTANT; DNA DETERMINATION; DNA SEQUENCE; FEMALE; GENE AMPLIFICATION; GENE DELETION; HUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; CHEMISTRY; FRAMESHIFT MUTATION; GENETICS; MOLECULAR GENETICS; MUTATION; NASA DISCIPLINE REGULATORY PHYSIOLOGY; NON-NASA CENTER; NUCLEOTIDE SEQUENCE;

NASA DISCIPLINE REGULATORY PHYSIOLOGY; NON-NASA CENTER;

ADULT; AMINO ACID TRANSPORT SYSTEMS, BASIC; BASE SEQUENCE; CARRIER PROTEINS; CYSTINURIA; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FEMALE; FRAMESHIFT MUTATION; HUMANS; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; RNA, MESSENGER; SEQUENCE DELETION;

EID: 0031985456     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110124     Document Type: Article

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