Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b(o,+)AT) of rBAT

Nature Genetics

Volumn 23, Issue 1, 1999, Pages 52-57

  Feliubadaló, Lídia ^a,b   Font, Mariona ^a   Purroy, Jesús ^a   Rousaud, Ferran ^c   Estivill, Xavier ^a   Nunes, Virginia ^a   Golomb, Eliahu ^d   Centola, Michael ^e   Aksentijevich, Ivona ^e   Kreiss, Yitshak ^f   Goldman, Boleslaw ^f   Pras, Mordechai ^f,g   Kastner, Daniel L ^e   Pras, Elon ^f   Gasparini, Paolo ^h   Bisceglia, Luigi ^h   Beccia, Ercole ^h   Gallucci, Michele ⁱ   De Sanctis, Luisa ^j   Ponzone, Alberto ^j   Rizzoni, Gian Franco ^k   Zelante, Leopoldo ^h   Bassi, Maria Teresa ^l   George Jr , Alfred L ^m   Manzoni, Marta ^l   De Grandi, Alessandro ^l   Riboni, Mirko ^l   Endsley, John K ^m   Ballabio, Andrea ^l   Borsani, Giuseppe ^l   Reig, Núria ^b   Fernández, Esperanza ^b   Estévez, Raúl ^b   Pineda, Marta ^b   Torrents, David ^b   Camps, Marta ^b   Lloberas, Jorge ^b   Zorzano, Antonio ^b   Palacin, Manuel ^b   more..

^a HOSPITAL DURAN I REYNALS   (Spain)

^b UNIVERSITY OF BARCELONA   (Spain)

^c HOSPITAL CLÍNIC   (Spain)

^d TEL AVIV UNIVERSITY   (Israel)

^e NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^f Sheba Medical Center   (Italy)

^g SHEBA MEDICAL CENTER   (Israel)

^h CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

ⁱ Cristo Re Hospital   (Italy)

^j UNIVERSITY OF TURIN   (Italy)

^k BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

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

^m VANDERBILT UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SEQUENCE; AMINO ACID TRANSPORT; ANIMAL CELL; ARTICLE; CELL MEMBRANE; CHROMOSOME 19Q; CONTROLLED STUDY; CYSTINURIA; GENE LOCATION; GENE MAPPING; GENETIC LINKAGE; MISSENSE MUTATION; MONKEY; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; AMINO ACID TRANSPORT SYSTEMS, BASIC; ANIMALS; CARRIER PROTEINS; CHROMOSOMES, HUMAN, PAIR 19; COS CELLS; CYSTINURIA; DNA, COMPLEMENTARY; FEMALE; FRAMESHIFT MUTATION; HUMANS; ITALY; JEWS; LIBYA; MALE; MEMBRANE GLYCOPROTEINS; MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NORTH AMERICA; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID; SPAIN; TISSUE DISTRIBUTION;

ANIMALIA;

EID: 0032821201     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/12652     Document Type: Article

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