New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: Detection of candidate regions by homozygosity mapping

Ines PereiroDiana ValverdeTeresa Pi?eiro-GallegoMontserrat BaigetSalud BorregoCarmen AyusoCharles SearbyDarryl Nishimura

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New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: Detection of candidate regions by homozygosity mapping

机译：Bardet-Biedl综合征的近血小家族中BBS基因的新突变：通过纯合作图检测候选区域

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《Molecular vision》 |2010年第2010期|共页
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Ines PereiroDiana ValverdeTeresa Pi?eiro-GallegoMontserrat BaigetSalud BorregoCarmen AyusoCharles SearbyDarryl Nishimura;
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中图分类生物化学;
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1. New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: Detection of candidate regions by homozygosity mapping [J] . Ayuso Carmen, Baiget Montserrat, Borrego Salud, Molecular vision . 2010,第2010期

机译：Bardet-Biedl综合征的近血小家族中BBS基因的新突变：通过纯合作图检测候选区域
2. Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. [J] . Laurier V, Stoetzel C, Muller J, European journal of human genetics: EJHG . 2006,第11期

机译：纯合性作图的陷阱：具有两个突变基因（BBS2，BBS10），三个突变但没有三倍性的扩展的近亲Bardet-Biedl综合征家族。
3. Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome [J] . Muzammil Ahmad Khan, Sumitra Mohan, Muhammad Zubair, BMC Medical Genetics . 2016,第1期

机译：纯合子作图鉴定了巴德特·比德尔综合征的近亲巴基斯坦家庭中BBS9基因的一种新的蛋白质截短突变（p.Ser100Leufs * 24）
4. A novel mutation of the PTCH1 gene activates the Shh/Gli signaling pathway in a Chinese family with nevoid basal cell carcinoma syndrome [C] . Tingting Zhang, Mingjie Chen, Yan Lü, Academic Committee Conference of Shanghai key lab of stomatology . 2011

机译：PTCH1基因的新型突变激活了中国患有避免基底细胞癌综合征的中国家庭的Shh / Gli信号通路
5. Role of Ciliary Proteins Adp Ribosylation Factor Like GTPase 13B (ARL13B) and Bardet-Biedl Syndrome-8 (BBS8) in Photoreceptor Outer Segment Morphogenesis, Maintenance, and Viability [D] . Dilan Perez, Tanya Lee. 2020

机译：睫状蛋白ADP核糖基化因子如GTPAse 13b（Arl13b）和Bardet-biedl综合征-8（bbs8）在感光体外部细胞发生，维护和活力中的作用
6. New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: Detection of candidate regions by homozygosity mapping [O] . Ines Pereiro, Diana Valverde, Teresa Piñeiro-Gallego, 2010

机译：Bardet-Biedl综合征的近血小家庭BBS基因的新突变：通过纯合作图检测候选区域
7. Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. [O] . Laurier, Virginie, Stoetzel, Corinne, Muller, Jean, 2006

机译：纯合性作图的陷阱：近亲的Bardet-Biedl综合征家族，具有两个突变基因（BBS2，BBS10），三个突变，但没有三倍性。

New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: Detection of candidate regions by homozygosity mapping

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