ABCA4 p.Met1Thr
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 19365591
[PubMed]
Maia-Lopes S et al: "ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis."
No.
Sentence
Comment
5
We report the presence of 22 putative pathogenic alterations, including two sequence changes not found in other populations, c.2T>C (p.Met1Thr) and c.4036_4037delAC (p.Thr1346fs), and two novel disease-associated variants, c.400C>T (p.Gln134X) and c.4720G>T (p.Glu1574X).
X
ABCA4 p.Met1Thr 19365591:5:135
status: NEW104 Pedigrees, elution dHPLC profiles, and sequence changes for each new disease-associated ABCA4 mutations are shown: A - p.Met1Thr (c.
X
ABCA4 p.Met1Thr 19365591:104:121
status: NEW103 Pedigrees, elution dHPLC profiles, and sequence changes for each new disease-associated ABCA4 mutations are shown: A - p.Met1Thr (c.
X
ABCA4 p.Met1Thr 19365591:103:121
status: NEW