Cystinuria in a girl presenting with a hyperechogenic colon detected by prenatal ultrasonography and a new SLC3A1 gene mutation (p.Phe278Ser)

Ultraschall Med. 2014 Oct;35(5):473-4. doi: 10.1055/s-0034-1366442. Epub 2014 May 13.

Authors

H Buxmann, T Eggermann, D Lorenz, A C Sewell, H Böhles, R L Schlößer, E Merz

PMID: 24824759
DOI: 10.1055/s-0034-1366442

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Alleles
Amino Acid Substitution / genetics*
Amino Acid Transport Systems, Basic / genetics*
Amino Acid Transport Systems, Neutral / genetics*
Colon / diagnostic imaging*
Colon / embryology
Consanguinity
Cystinuria / diagnostic imaging*
Cystinuria / embryology
Cystinuria / genetics*
DNA Mutational Analysis*
Exons / genetics
Female
Homozygote
Humans
Infant
Infant, Newborn
Kidney / diagnostic imaging
Kidney Calculi / diagnostic imaging
Kidney Calculi / embryology
Kidney Calculi / genetics
Phenylalanine / genetics*
Pregnancy
Pregnancy Trimester, Third
Serine / genetics*
Ultrasonography, Prenatal*

Substances

Amino Acid Transport Systems, Basic
Amino Acid Transport Systems, Neutral
SLC3A1 protein, human
Serine
Phenylalanine