Novel human pathological mutations. Gene symbol: SLC7A9. Disease: cystinuria
Hum Genet
.
2007 Dec;122(5):554.
Authors
Luigi Bisceglia
1
,
Eirini Louizou
,
Lucia Fischetti
,
George Dedoussis
Affiliation
1
Servizio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, FG, Viale Padre Pio, 1, 71013, San Giovanni Rotondo, Italy. l.bisceglia@operapadrepio.it
PMID:
18383603
No abstract available
MeSH terms
Amino Acid Substitution
Amino Acid Transport Systems, Basic / genetics*
Codon / genetics
Cystinuria / genetics*
Humans
Mutation, Missense*
Substances
Amino Acid Transport Systems, Basic
Codon
SLC7A9 protein, human