… We report on a PKU patient in whom apparent homozygosity for a mild PKU mutation (E390G)
was found to be due to compound heterozygosity for this mutation and a large deletion in …

… The mutation, identified by SSCP analysis, was not observed in 116 unrelated, … other
missense mutations, the Cys283Tyr missense mutation in Gypsies and the Leu193Ser mutation in a …

… mutations, especially heterozygous deletions. Until now, we have screened for large deletions
in … fluorescent fragments (QMPSF) to identify large deletions and duplications in the ALPL …

… for the exon 3+4 deletion. The mutation affects a highly conserved segment of the predicted
protein, changing a basic amino acid into neutral. The large deletion probably results in a …

… types of mutations causing BCM are as follows: (1) large deletions covering the locus … (2)
the C203R missense mutation. We first studied BCM patients with large deletion mutations and …

… types of mutations including missense, frameshift, inframe deletion, deletion, insertion, … ”);
“D” is used to characterize combined mutations affecting more than one gene site or large gene …

… % diagnostic efficiency to identify the mutation spectrum in 81 Romanian PKU patients.
Besides the novel deletion Ex6del7831, we report on two new missense mutations, p.Gln226Lys …

… The functional consequences of these missense mutations … Here, we report the effects of
these mutations on POX activity. … with large deletions and/or PRODH missense mutations with …

… for two novel GNE mutations: a large deletion involving exons 1—9, and a R162C amino
acid change in the epimerase domain. This is the first deletion event observed in a GNE allele …

… Results: We have identified a 414-kb deletion including the entire ITPR1 and exon 1 of
SUMF1 in patients in family A. The expression levels of ITPR1 and SUMF1 mRNAs of the patient …