The H syndrome: two novel mutations affecting the same amino acid residue of hENT3.
Molho-Pessach
Vered
V
Suarez
José
J
Perrin
Christophe
C
Chiaverini
Christine
C
Doviner
Victoria
V
Tristan-Clavijo
Enriqueta
E
Colmenero
Isabel
I
Giuliano
Fabienne
F
Torrelo
Antonio
A
Zlotogorski
Abraham
A
D000293:Adolescent; D000328:Adult; D000596:Amino Acids / Q000737:chemistry; D001483:Base Sequence; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D033703:Nucleoside Transport Proteins / Q000235:genetics*; D010375:Pedigree; D010858:Pigmentation; D017422:Sequence Analysis, DNA; D012689:Sequence Homology, Nucleic Acid; D012871:Skin Diseases / Q000235:genetics* / Q000473:pathology; D013577:Syndrome
D000596:Amino Acids; D033703:Nucleoside Transport Proteins; C501424:SLC29A3 protein, human