New insights into cystinuria: 40 New mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype

Journal of Medical Genetics

Volumn 42, Issue 1, 2005, Pages 58-68

  Font Llitjos M ^a   Jimenez Vidal M ^a,b   Bisceglia, L ^c   Di Perna, M ^c   De Sanctis, L ^d   Rousaud, F ^e   Zelante, L ^c   Palacin M ^b   Nunes, Virginia ^a  

^a HOSPITAL DURAN I REYNALS   (Spain)

^b UNIVERSITY OF BARCELONA   (Spain)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^d UNIVERSITY OF TURIN   (Italy)

^e FUNDACIÓ PUIGVERT   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CYSTINE;

AMINO ACID TRANSPORT; AMINOACIDURIA; ARTICLE; AUTOSOMAL DISORDER; CHROMOSOME 2P; CYSTINURIA; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DISEASE CLASSIFICATION; GASTROINTESTINAL TRACT; GENE; GENE MUTATION; GENETIC LINKAGE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INBORN ERROR OF METABOLISM; KIDNEY PROXIMAL TUBULE; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; SLC3A1 GENE; SLC7A9 GENE; URINARY EXCRETION;

AMINO ACID TRANSPORT SYSTEMS, BASIC; AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; CYSTINURIA; DNA MUTATIONAL ANALYSIS; GENOTYPE; HETEROZYGOTE DETECTION; HUMANS; MUTATION; PHENOTYPE;

EID: 13244281811     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.022244     Document Type: Article

References (41)

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