| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T1 |
0-132 |
Sentence |
denotes |
Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient. |
| T2 |
133-342 |
Sentence |
denotes |
Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene in a mucopolysaccharidosis type VI patient was solved in this study by further testing for a second mutation. |
| T3 |
343-477 |
Sentence |
denotes |
Patient cDNA analysis revealed that the entire exon 5 of the ARSB gene was lacking; this new mutation was identified as c.899-1142del. |
| T4 |
478-670 |
Sentence |
denotes |
As the genomic DNA sequencing excluded the presence of splicing mutations, polymerase chain reaction analysis was performed for polymorphisms listed in the NCBI SNP database for the ARSB gene. |
| T5 |
671-979 |
Sentence |
denotes |
This allowed the mutation at the genomic DNA level to be identified as g.99367-102002del; this gross deletion, involving the entire exon 5 of the gene and parts of introns 4 and 5 led to a frameshift starting at amino acid 300 and resulting in a protein with 39% amino acids different from the normal enzyme. |
| T6 |
980-1121 |
Sentence |
denotes |
We stress that extensive DNA analysis needs to be performed in case of apparent homozygosity to avoid potential errors in genetic counseling. |
