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management:question_list [Retinoblastoma Wiki]
 

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List of open questions/ discussion points

  • email to van der Hout: p.Asp286Gly: new germline mut: were parents analysed
  • LOH: dont know what do w/ p.Pro20Leu
  • LOH: ist p.Ala22Glu weak or strong evidence (is only one fam = weak?)
  • Nichols: wurden Eltern untersucht bei: p.Pro23_Pro24del (see Paper first)
  • p.Arg46Lys/splice: more info in LOVD (papers etc.), include in wiki as well? /where does info of “somatic mutation” come from?
  • p.Arg46Thr/splice: where does info come from?
  • p.Glu72Gln: need paper: Germline mutations in the RB1 gene ..., Liu et al.
  • p.Ile126Ser: parents were NOT analysed according to paper, authors call it novel mutation: What kind of evidence now?
  • p.Asn133His: observed in a „normal control individual from Africa“ –> where??
  • p.Glu137Asp need paper : Conservation of the RB1 gene in human and primates
  • p.Ile138Ser: can somatic be new w/o parents analysed?
  • p.Ile181Thr parents analysed? (somatic mutation) Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9.
  • p.Ile185Thr/ p.Ser187Thr: need paper to see if parent analysd
  • p.ile196thr: new mut?? (article in russian, write email ?)
  • p.Glu204Glu: Paper says parents were tested for mutation but result for this spec. mut. not mentioned
  • p.Met219Thr: Rushlow said that parents blood was requested: Analysed yet??
  • p.Ser230Proget paper: Hum Mutat. 2008 Jul;29(7):975-82. Evaluation of in silico splice tools for decision-making in molecular diagnosis.
 
management/question_list.txt · Last modified: 2011/03/04 10:21 by steffi
 
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