Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients

Clinical Genetics

Volumn 81, Issue 1, 2012, Pages 47-55

  Barbosa, M ^a,b   Lopes, A ^a   Mota, C ^c   Martins, E ^c   Oliveira, J ^a   Alves, S ^a   de Bonis, P ^d   do Ceu Mota M ^c   Dias, C ^a,g   Rodrigues Santos, P ^e   Fortuna, A M ^a   Quelhas, D ^a   Lacerda, L ^a   Bisceglia, L ^d   Cardoso, M L ^f  

^a NATIONAL INSTITUTE OF HEALTH   (Portugal)

^b UNIVERSITY OF MINHO   (Portugal)

^c HOSPITAL MARIA PIA   (Portugal)

^d CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^e UNIVERSITY OF COIMBRA   (Portugal)

^f UNIVERSITY OF PORTO   (Portugal)

^g UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

Cystinuria; MLPA analysis; Silent mutation; SLC3A1 gene; SLC7A9 gene

Indexed keywords

PROTEIN; PROTEIN SLC3A1; PROTEIN SLC7A9; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHEMICAL ANALYSIS; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CYSTINURIA; DISEASE CLASSIFICATION; FEMALE; GENE; GENE REARRANGEMENT; GENETIC COUNSELING; GENOTYPE; HUMAN; INFANT; MALE; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ALLELES; AMINO ACID TRANSPORT SYSTEMS, BASIC; AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; AMINO ACIDS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; COMPUTATIONAL BIOLOGY; CYSTINE; CYSTINURIA; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; GENOME, HUMAN; GENOMIC STRUCTURAL VARIATION; GENOTYPE; HUMANS; INFANT; MALE; MUTATION, MISSENSE; PORTUGAL; PREVALENCE;

EID: 83355175502     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01638.x     Document Type: Article

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