Cystinuria in a girl presenting with a hyperechogenic colon detected by prenatal ultrasonography and a new SLC3A1 gene mutation (p.Phe278Ser).
H
H
Buxmann
T
T
Eggermann
D
D
Lorenz
A C
AC
Sewell
H
H
Böhles
R L
RL
Schlößer
E
E
Merz
D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution / Q000235:genetics*; D026923:Amino Acid Transport Systems, Basic / Q000235:genetics*; D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics*; D003106:Colon / Q000000981:diagnostic imaging* / Q000196:embryology; D003241:Consanguinity; D003555:Cystinuria / Q000000981:diagnostic imaging* / Q000196:embryology / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney / Q000000981:diagnostic imaging; D007669:Kidney Calculi / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics; D010649:Phenylalanine / Q000235:genetics*; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D012694:Serine / Q000235:genetics*; D016216:Ultrasonography, Prenatal
D026923:Amino Acid Transport Systems, Basic; D026921:Amino Acid Transport Systems, Neutral; C489857:SLC3A1 protein, human; D012694:Serine; D010649:Phenylalanine