Identification of novel SLC3A1 gene mutations in Spanish cystinuria families and association with clinical phenotypes

Clinical Genetics

Volumn 67, Issue 3, 2005, Pages 240-251

  Guillén, Marisa ^a   Corella, D ^a   Cabello, M L ^b   Gonzalez J I ^a   Sabater, A ^a   Chaves, J F ^a   Hernandez Yago J ^c  

^a UNIVERSITY OF VALENCIA   (Spain)

^b HOSPITAL UNIVERSITARIO LA FE   (Spain)

^c Laboratory of Animal Models   (Spain)

Author keywords

CSGE; Cystinuria; Genotype phenotype correlation; SLC3A1 gene

Indexed keywords

ALANINE; AMINO ACID TRANSPORTER; CYSTEINE; GENOMIC DNA; GLYCINE; PROTEIN SLC3A1; THREONINE; UNCLASSIFIED DRUG;

ADULT; AMINO ACID URINE LEVEL; ARTICLE; BASE PAIRING; CLINICAL ARTICLE; CONFORMATION; CONTROLLED STUDY; CYSTINURIA; DISEASE CLASSIFICATION; FAMILY STUDY; FEMALE; GEL ELECTROPHORESIS; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HUMAN; MALE; MUTATION RATE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; POPULATION GENETICS; PREVALENCE; PRIORITY JOURNAL; RELATIVE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SENSITIVITY ANALYSIS; SPAIN; STATISTICAL ANALYSIS; URINARY EXCRETION;

ADOLESCENT; ADULT; AMINO ACID TRANSPORT SYSTEMS, BASIC; AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; CHILD; CYSTINURIA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; SPAIN; VARIATION (GENETICS);

EID: 14044272996     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2004.00393.x     Document Type: Article

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