|
|
Volumn 15, Issue 4, 2000, Pages 390-
|
|
Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics.
|
|
Author keywords
[No Author keywords available]
|
|
Indexed keywords
AMINO ACID TRANSPORTER;
ASPARAGINE;
CARRIER PROTEIN;
CYSTEINE;
MEMBRANE PROTEIN;
SLC7A9 PROTEIN, HUMAN;
THREONINE;
VALINE;
AMINO ACID SUBSTITUTION;
ARTICLE;
CYSTINURIA;
FEMALE;
GENE DELETION;
GENETICS;
HOMOZYGOTE;
HUMAN;
MALE;
MISSENSE MUTATION;
NON-PROGRAMMATIC;
POINT MUTATION;
RECESSIVE GENE;
URINE;
NON-PROGRAMMATIC;
AMINO ACID SUBSTITUTION;
AMINO ACID TRANSPORT SYSTEMS, BASIC;
ASPARAGINE;
CARRIER PROTEINS;
CYSTEINE;
CYSTINURIA;
FEMALE;
GENES, RECESSIVE;
HOMOZYGOTE;
HUMANS;
MALE;
MEMBRANE GLYCOPROTEINS;
MUTATION, MISSENSE;
POINT MUTATION;
SEQUENCE DELETION;
THREONINE;
VALINE;
|
|
EID: 0034164566
PISSN: None
EISSN: 10981004
Source Type: Journal
DOI: 10.1002/(SICI)1098-1004(200004)15:4<390::AID-HUMU33>3.0.CO;2-K Document Type: Article |
|
Times cited : (4)
|
|
References (0)
|
