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Extra resources for Artificial neural networks
New York: Oxford University Press. Huber I, Bitner-Glindzicz M, de Kok YJ, van der Maarel SM, Ishikawa-Brush Y, Monaco AP, Robinson D, Malcolm S, Pembrey ME, Brunner HG, Cremers FPM (1994) X-linked mixed deafness (DFN3): Cloning and characterization of the critical region allows the identiﬁcation of novel microdeletions. Hum Mol Genet 3:1151–1154. B. Avraham and T. Hasson Hulander M, Wurst W, Carlsson P, Enerbach S (1998) The winged helix transcription factor Fkh10 is required for normal development of the inner ear.
Reprinted from Emery’s Elements of Medical Genetics, 10th ed, Meuller, RF, Fig. ) 3. F. Mueller et al. types of DNA sequence variants that can be used in linkage analysis. The oldest, restriction fragment length polymorphisms (RFLPs), owing to their limited variation, have almost exclusively been replaced by a subset of variable number tandem repeats (VNTRs) known as microsatellites. The latter are likely to be succeeded in the near future by single nucleotide polymorphisms (SNPs). VNTR polymorphisms are due to the presence of a different number of tandem repeats of short DNA sequences including either di-, tri- or tetranucleotide repeats known as short tandem repeats (STRs).
1998 Verhoeven et al. 1998 Verhoeven et al. , 211del13 is a 13-bp deletion at nucleotide 211). Nucleotides in lower case remain the same; nucleotide in upper case is mutated. e. Q183K is glutamine to lysine at amino acid number 183 of the protein). d X = stop codon. 3. B. Avraham and T. Hasson 2. Genes and Mutations 33 unaffected family members, or 100 non-related individuals. In all cases, the conserved zona pellucida domain of the a-tectorin protein is compromised by the replacement of alternate amino acids, suggesting this region has a crucial function for this protein (Verhoeven et al.