| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T1 |
0-70 |
Sentence |
denotes |
Mutations associated with variant phenotypes in ataxia-telangiectasia. |
| T2 |
71-307 |
Sentence |
denotes |
We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe clinical and cellular phenotype (approximately 10%-15% of A-T families identified in the United Kingdom). |
| T3 |
308-463 |
Sentence |
denotes |
In 10 of these families, all the homozygotes have a 137-bp insertion in their cDNA caused by a point mutation in a sequence resembling a splice-donor site. |
| T4 |
464-527 |
Sentence |
denotes |
The second A-T allele has a different mutation in each patient. |
| T5 |
528-706 |
Sentence |
denotes |
We show that the less severe phenotype in these patients is caused by some degree of normal splicing, which occurs as an alternative product from the insertion-containing allele. |
| T6 |
707-841 |
Sentence |
denotes |
The level of the 137-bp PCR product containing the insertion was lowest in two patients who showed a later onset of cerebellar ataxia. |
| T7 |
842-918 |
Sentence |
denotes |
A further four families who do not have this insertion have been identified. |
| T8 |
919-1016 |
Sentence |
denotes |
Mutations detected in two of four of these are missense mutations, normally rare in A-T patients. |
| T9 |
1017-1219 |
Sentence |
denotes |
The demonstration of mutations giving rise to a slightly milder phenotype in A-T raises the interesting question of what range of phenotypes might occur in individuals in whom both mutations are milder. |
| T10 |
1220-1343 |
Sentence |
denotes |
One possibility might be that individuals who are compound heterozygotes for ATM mutations are more common than we realize. |
