机译:在常染色体隐性溶酶体障碍中作为疾病机制的节段性和全向内分段性(Upid):来自SNP阵列的证据
Erasmus Univ Med Ctr Dept Clin Genet Rotterdam Netherlands;
Erasmus Univ Med Ctr Dept Clin Genet Rotterdam Netherlands;
Erasmus Univ Med Ctr Dept Clin Genet Mol Stem Cell Biol Rotterdam Netherlands;
Erasmus Univ Med Ctr Dept Clin Genet Rotterdam Netherlands;
Erasmus Univ Med Ctr Dept Clin Genet Rotterdam Netherlands;
Helsinki Univ Hosp Dept Clin Genet Helsinki Finland;
Natl Inst Hlth Dr Ricardo Jorge Dept Human Genet Unit Res &
Dev Porto Portugal;
IBMC Univ Porto Unilipe Porto Portugal;
Inst Child Hlth Dept Enzymol &
Cellular Funct Athens Greece;
Inst Child Hlth Dept Enzymol &
Cellular Funct Athens Greece;
Karolinska Univ Hosp Ctr Inherited Metab Dis Stockholm Sweden;
Erasmus Univ Med Ctr Dept Clin Genet Rotterdam Netherlands;
Erasmus Univ Med Ctr Dept Clin Genet Rotterdam Netherlands;
Univ Med Ctr Groningen Dept Genet Groningen Netherlands;
Univ Med Ctr Groningen Dept Genet Groningen Netherlands;
Erasmus Univ Med Ctr Sophia Dept Pediat Div Metab Dis &
Genet Rotterdam Netherlands;
Erasmus Univ Med Ctr Sophia Dept Pediat Div Metab Dis &
Genet Rotterdam Netherlands;
Erasmus Univ Med Ctr Dept Clin Genet Mol Stem Cell Biol Rotterdam Netherlands;
Erasmus Univ Med Ctr Dept Clin Genet Rotterdam Netherlands;
Erasmus Univ Med Ctr Dept Clin Genet Rotterdam Netherlands;
机译:在常染色体隐性溶酶体障碍中作为疾病机制的节段性和全向内分段性(Upid):来自SNP阵列的证据
机译:发单调异教模式的分类,导致常染色体隐性疾病:在每个模式中的不同比例和父母来源的提出机制
机译:使用全基因组SNP阵列和全基因组测序数据的三重奏中的单亲二体分析表明在普通人群中存在分段单亲等距
机译:节段性和总单亲等位基因切割(UPiD)作为常染色体隐性溶酶体疾病的疾病机制:来自SNP阵列的证据
机译:使用全基因组sNp阵列和全基因组测序数据进行三联体中的单亲二体分析意味着在一般人群中进行节段性单亲性等位切除术