Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-type I cystinuria

Human Molecular Genetics

Volumn 10, Issue 4, 2001, Pages 305-316

  Font, Mariona ^a   Feliubadaló, Lídia ^a,b   Estivill, Xavier ^a   Nunes, Virginia ^a   Golomb, Eliahu ^c   Kreiss, Yitshak ^d   Pras, Elon ^c,d,e   Bisceglia, Luigi ^f   D'Adamo, Adamo P ^f   Zelante, Leopoldo ^f   Gasparini, Paolo ^f   Bassi, Maria Teresa ^g   George Jr , Alfred L ^h   Manzoni, Marta ^g   Riboni, Mirko ^g   Ballabio, Andrea ^g   Borsani, Giuseppe ^g   Reig, Núria ^b   Fernández, Esperanza ^b   Zorzano, Antonio ^b   Bertran, Joan ^b   Palacín, Manuel ^b   more..

^a HOSPITAL DURAN I REYNALS   (Spain)

^b UNIVERSITY OF BARCELONA   (Spain)

^c TEL AVIV UNIVERSITY   (Israel)

^d Department of Medicine C ^*  (Israel)

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

^f CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^g TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^h VANDERBILT UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CARRIER PROTEIN; CYSTINE; SLC7A9 PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CHROMOSOME 19Q; CHROMOSOME 2P; CONTROLLED STUDY; CYSTINURIA; EXON; GENE EXPRESSION; GENE MUTATION; GENE STRUCTURE; GENOTYPE; HELA CELL; HETEROZYGOTE; HUMAN; KIDNEY TUBULE ABSORPTION; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NEPHROLITHIASIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; URINARY EXCRETION;

EID: 0035865031     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.4.305     Document Type: Article

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