| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T1 |
0-95 |
Sentence |
denotes |
Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis. |
| T2 |
96-185 |
Sentence |
denotes |
Diffuse mesangial sclerosis occurs as an isolated abnormality or as a part of a syndrome. |
| T3 |
186-320 |
Sentence |
denotes |
Recently, mutations in phospholipase C epsilon 1 (PLCE1) were found to cause a nonsyndromic, autosomal recessive form of this disease. |
| T4 |
321-500 |
Sentence |
denotes |
Here we describe three children from one consanguineous kindred of Pakistani origin with diffuse mesangial sclerosis who presented with congenital or infantile nephrotic syndrome. |
| T5 |
501-653 |
Sentence |
denotes |
Homozygous mutations in PLCE1 (also known as KIAA1516, PLCE, or NPHS3) were identified following genome-wide mapping of single-nucleotide polymorphisms. |
| T6 |
654-783 |
Sentence |
denotes |
All affected children were homozygous for a four-basepair deletion in exon 3, which created a premature translational stop codon. |
| T7 |
784-902 |
Sentence |
denotes |
Analysis of the asymptomatic father of two of the children revealed that he was also homozygous for the same mutation. |
| T8 |
903-1082 |
Sentence |
denotes |
We conclude this nonpenetrance may be due to compensatory mutations at a second locus and that mutation within PLCE1 is not always sufficient to cause diffuse mesangial sclerosis. |
