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Four of the previously unknown gene mutations were later found in the genetic code of platelet cells, but one was not; that one, however, was found close to a gene that is known to be essential in the formation of normal platelets.
The Riezman lab initially tested this collection for strains deficient in uptake of the bulk fluid phase marker Lucifer Yellow, identifying the end1 and end2 mutants (Chvatchko et al. 1986); however, these mutations were later found to have no direct effect on the internalization process (Dulic and Riezman 1989; Hamburger et al. 1995).
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The 1432A>G MTPAP mutation, and lack of ATM mutations, was later confirmed in RS63-7 once a cell line could be derived.
Generally, it is thought that proliferative (type I) mutations are later events that cooperate with a variety of initiating lesions to produce disease.
Mutagenic primers were designed according to manufacturer recommendations and the uniqueness of each mutation was later confirmed by sequencing an 800 bp fragment encompassing the mutated nucleotide.
Platypus is an exception however, being the only animal found to have conserved Gly193 in KLK10, probably indicating that this mutation was later introduced in order for the protein to acquire a very strict specificity and likely a highly specific biological function.
The same mutation was later reported in a second case of pancreatic agenesis 6.
An R292K mutation was later found in throat swab samples starting from day 4 after oseltamivir treatment using genotypic analysis.
In fact, the V299L mutation was later detected in this patient and might explain this clinical course, as this mutation confers a poorer efficacy for dasatinib [ 16].
The mutation was later identified in the siblings of the patient and in her daughter who at the age of 29 years is an asymptomatic carrier.
This mutation was later found in several unrelated families, all showing a wide clinical spectrum, including isolated hearing loss, ataxia and MERRF.
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