ABCMdb

PMID: 22871184

Burke TR, Yzer S, Zernant J, Smith RT, Tsang SH, Allikmets R
Abnormality in the external limiting membrane in early Stargardt Disease.
Ophthalmic Genet. 2012 Aug 7., [PubMed]

Sentences

No. Mutations Sentence Comment

31 ABCA4 p.Gly1961Glu The proband was, as expected, heterozygous for this variant and had also inherited the G1961E variant from her father (Figure 1) as determined by direct sequencing of the entire coding region of the ABCA4 gene. Login to comment 32 ABCA4 p.Gly1961Glu The proband was, as expected, heterozygous for this variant and had also inherited the G1961E variant from her father (Figure 1) as determined by direct sequencing of the entire coding region of the ABCA4 gene. Login to comment 35 ABCA4 p.Gly1961Glu The detection of BEM was not surprising as this patient carried the common G1961E mutation, which is known to yield a BEM phenotype in STGD1.7 The significance of thickening of the ELM remains, as yet, unclear. Login to comment 36 ABCA4 p.Gly1961Glu The detection of BEM was not surprising as this patient carried the common G1961E mutation, which is known to yield a BEM phenotype in STGD1.7 The significance of thickening of the ELM remains, as yet, unclear. Login to comment