8 research outputs found
Cumulative number of distinct peptides as a function of the addition of more good spectra (identified with ≥ 0
<p><b>Copyright information:</b></p><p>Taken from "Integration with the human genome of peptide sequences obtained by high-throughput mass spectrometry"</p><p>Genome Biology 2004;6(1):R9-R9.</p><p>Published online 10 Dec 2004</p><p>PMCID:PMC549070.</p><p>Copyright © 2004 Desiere et al.; licensee BioMed Central Ltd.</p>9). Eventually the pattern is expected to show saturation, as most observable peptides will have been cataloged. However, at present there is no evidence of saturation and around 100 new peptides are still cataloged per 1,000 identified spectra added
Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry
<p>Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry</p
Summary of the 187 patients included in the genetic study.
<p>Summary of the 187 patients included in the genetic study.</p
Schematic representation of <i>ATP1A3</i> mutations.
<p>Mutations identified in our cohort are indicated above the gene; all the mutations previously published are indicated in black; novel mutations are indicated in light blue; mutations identified in multiplex cases are underlined; mutations reported in DYT12 are indicated in green; the mutation reported in CAPOS syndrome is indicated in red. The mutation associated with a phenotype combining features of both AHC and RDP is in orange. The 2 most common mutations are in bold. Asterisks mean that 2 different nucleotide changes have been identified for these protein variants.</p
Ages at unsupported sitting acquisition in each group of patients defined by their genotype.
<p>Cumulative probability of acquiring unsupported sitting by patients presenting the E815K mutation, compared to patientsmutation (3b). Patients with the E815K mutation are likely to gain unsupported sitting at a later age than patients in each of the other groups (respectively P = 0.0002 and P = 0.0020).</p
Ages at onset of AHC in each group of patients defined by their genotype.
<p>The horizontal lines in the boxes indicate the 25th percentile (bottom), the median (middle) and the 75 percentile (top) values. Crosses indicate the mean values. Numbers of patients analyzed in each group are indicated above the boxes.</p
Odds ratio for occurrence of status epilepticus in AHC patients with different <i>ATP1A3</i> mutations.
<p>Odds ratio for occurrence of status epilepticus in AHC patients with different <i>ATP1A3</i> mutations.</p
Summary of 164 AHC patients included in the genotype-phenotype correlation study.
<p>Summary of 164 AHC patients included in the genotype-phenotype correlation study.</p