| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T1 |
0-99 |
Sentence |
denotes |
Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome. |
| T2 |
100-279 |
Sentence |
denotes |
Wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive optic atrophy, sensorineural deafness and diabetes insipidus. |
| T3 |
280-389 |
Sentence |
denotes |
Affected individuals may also have renal tract abnormalities as well as neurogical and psychiatric syndromes. |
| T4 |
390-475 |
Sentence |
denotes |
WFS1 encoding a transmembrane protein was identified as the gene responsible for WFS. |
| T5 |
476-551 |
Sentence |
denotes |
We report herein a Japanese family, of which two members had this syndrome. |
| T6 |
552-664 |
Sentence |
denotes |
In the WFS1 gene of these patients, we identified a novel mutation, a nine nucleotide insertion (AFF344-345ins). |
| T7 |
665-768 |
Sentence |
denotes |
In addition, one of these patients had preclinical hypopituitarism, which is an unusual feature of WFS. |
| T8 |
769-909 |
Sentence |
denotes |
As only the two family members homozygous for the mutation showed WFS, these data support the notion that this mutation is the cause of WFS. |
