Clinical utility gene card for: Cystinuria

European Journal of Human Genetics

Volumn 20, Issue 2, 2012, Pages 247-

  Eggermann, Thomas ^a   Zerres, Klaus ^a   Nunes, Virginia ^b,c,d   Font Llitjós, Mariona ^b,c,d   Bisceglia, Luigi ^e   Chatzikyriakidou, Anthoula ^f   Strologo, Luca Dello ^g   Pras, Elon ^h   Creemers, John ⁱ   Palacin, Manuel ^c  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^c UNIVERSITY OF BARCELONA   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^e CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^f UNIVERSITY HOSPITAL OF IOANNINA   (Greece)

^g BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^h GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

ⁱ UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

RYANODINE RECEPTOR 1; AMINO ACID TRANSPORTER; SLC3A1 PROTEIN, HUMAN; SLC7A9 PROTEIN, HUMAN;

ARTICLE; CENTRAL CORE DISEASE; CLINICAL FEATURE; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; ETHNIC GROUP; GENE MUTATION; GENETIC RISK; GENETIC SCREENING; GENOTYPE; HISTOPATHOLOGY; HUMAN; INCIDENCE; LIFESTYLE; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; RISK ASSESSMENT; CHROMOSOME 2; CYSTINURIA; GENETICS; METHODOLOGY; NUCLEOTIDE SEQUENCE; PROGNOSIS; SENSITIVITY AND SPECIFICITY;

AMINO ACID TRANSPORT SYSTEMS, BASIC; AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; CHROMOSOMES, HUMAN, PAIR 2; CYSTINURIA; DNA MUTATIONAL ANALYSIS; GENETIC TESTING; HUMANS; PROGNOSIS; SENSITIVITY AND SPECIFICITY;

EID: 84855761159     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.163     Document Type: Article

References (10)

1. Bisceglia L, Fischetti L, Bonis PD et al: Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients. Mol Genet Metab 2010; 99: 42-52.
2. Calonge MJ, Gasparini P, Chillarón J et al: Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nat Genet 1994; 6: 420-425. (Pubitemid 24190030)
3. Chatzikyriakidou A, Sofikitis N, Kalfakakou V, Siamopoulos K, Georgiou I: Evidence for association of SLC7A9 gene haplotypes with cystinuria manifestation in SLC7A9 mutation carriers. Urol Res 2006; 34: 299-303. (Pubitemid 44454953)
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8. Font-Llitjós M, Jiménez-Vidal M, Bisceglia L et al: New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. J Med Genet 2005; 42: 58-68. (Pubitemid 40187123)
9. Martens K, Heulens I, Meulemans S et al: Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome. Eur J Hum Genet 2007; 15: 1029-1033. (Pubitemid 47491457)
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