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Results: A germline mutation was identified at nucleotide 676 (codon 226) of the hMLH1 gene.
Only one mutation was identified discriminating between B. mallei and B. pseudomallei.
Compound heterozygosity for one missense and one null mutation was identified in two additional nonconsanguineous SRP families.
The VDR H305Q mutation was identified in a patient who exhibited the hereditary vitamin D-resistant rickets (HVDRR).
SOD1 mutations were rare (0.83%), but a novel and probably disease-causing mutation was identified: p.Ala152Pro (c.457G>C).
No amino acid changing mutation was identified.
Whenever a putative mutation was identified, the sample was re-amplified and re-sequenced for confirmation.
This mutation was identified in three patients with CAIS [11], [27], [28].
The BRAF V600E mutation was identified in 12 of the 20 PXA (60%).
A noteworthy example of a proline suppressor mutation was identified in the F327A/K285P suppressor.
Despite this flaw, the C170T mutation was identified and assigned to the correct position.
More suggestions(15)
abnormality was identified
mutation was described
mutation were identified
mutation was confirmed
mutation was repeated
mutation was labeled
mutation was genotyped
mutation was created
mutation was backcrossed
mutation was introduced
mutation was expected
mutation was termed
mutation was found
mutation was used
mutation was transformed
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