| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T1 |
0-125 |
Sentence |
denotes |
Identification of three F5 gene mutations associated with inherited coagulation factor V deficiency in two Chinese pedigrees. |
| T2 |
126-228 |
Sentence |
denotes |
To investigate the molecular defects in two Chinese pedigrees with inherited factor V (FV) deficiency. |
| T3 |
229-411 |
Sentence |
denotes |
A 37-year-old male (proband 1) and an 18-month-old boy (proband 2) were diagnosed as inherited coagulation FV deficiency by severely reduced plasma levels of FV activity and antigen. |
| T4 |
412-577 |
Sentence |
denotes |
All 25 exons and their flanking sequence of F5 gene were amplified by polymerase chain reaction (PCR) for both probands and the PCR products were directly sequenced. |
| T5 |
578-687 |
Sentence |
denotes |
Total RNA was extracted from the peripheral lymphocytes of proband 1 for detecting the changes at mRNA level. |
| T6 |
688-947 |
Sentence |
denotes |
The homozygous deletion IVS8 -2A>G was identified in the F5 gene of proband 1 and complementary DNA (cDNA) analysis revealed the abolishment of the canonical splicing site by the mutation and the activation of the cryptic acceptor site 24 bp upstream instead. |
| T7 |
948-1027 |
Sentence |
denotes |
The insertion introduced eight additional amino acids (AA) into the FV protein. |
| T8 |
1028-1095 |
Sentence |
denotes |
Two heterozygous mutations of F5 gene were discovered in proband 2. |
| T9 |
1096-1261 |
Sentence |
denotes |
The 2238-9del AG in exon 13 introduced a premature termination code at 689 AA and the substitution of G6410 by T in exon 23 lead to the missense mutation Gly2079Val. |
| T10 |
1262-1413 |
Sentence |
denotes |
Three F5 gene mutations, IVS8 -2A>G, 2238-9del AG and G6410T, have been identified in two Chinese pedigree with congenital FV deficiency, respectively. |
