A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia

Akie Nakamura; Tomoyuki Hostubo; Wakako Jo; Katsura Ishizu; Toshihiro Tajima

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A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia

机译：假性甲状旁腺功能减退症Ia患者GNAS基因的新型剪接突变

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《Clinical Pediatric Endocrinology 》 |2011年第1期| 共3页
作者
Akie Nakamura; Tomoyuki Hostubo; Wakako Jo; Katsura Ishizu; Toshihiro Tajima;
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中图分类医学免疫学 ;
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1. A positive genotype–phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo‐pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene [J] . Benedikt Reiz, Bettina Brix, Dagmar Struve, Molecular Genetics & Genomic Medicine . 2015 ,第2期

机译：一大批Ia型假性甲状旁腺功能减退症和Pseudo-pseudo-hypoparamethoxyism病患以及33个新发现的GNAS基因突变患者中，基因型与表型呈正相关
2. Different Pattern of Epigenetic Changes of the GNAS Gene Locus in Patients With Pseudohypoparathyroidism Type Ic Confirm the Heterogeneity of Underlying Pathomechanisms in This Subgroup of Pseudohypoparathyroidism and the Demand for a New Classification of GNAS-Related Disorders [J] . Bettina Brix, Ralf Werner, Pia Staedt, The journal of clinical endocrinology and metabolism . 2014 ,第8期

机译：Ic型假性甲状旁腺功能减退症患者GNAS基因位点表观遗传变化的不同模式证实了该假性甲状旁腺功能减退症亚组潜在病机的异质性和对GNAS相关疾病的新分类的需求
3. A novel synonymous variant in exon 1 of GNAS gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French family [J] . Andreea Apetrei, Arnaud Molin, Nicolas Gruchy, Bone Reports . 2021 ,第a期

机译： gnas 基因导致隐秘的剪接部位，导致法国家庭中的伪症症型1A和假拷贝症状功能亢进症
4. Sentosa SQ Leukemia Panel: Development of Targeted Next Generation Sequencing IVD Test for Detecting Mutations in Leukemia Patients [C] . Atreyee Saha, Pramila Ariyaratne, Wen Huang, International Molecular Medicine Tri-Conference. . 2016

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5. Diverse mechanisms of human genetic disease: Splice order determination in the COL1A2 gene. Effects that influence splice site mutations in osteogenesis imperfecta and a translocation disrupting SNRPN gene causes Prader-Willi syndrome. [D] . Kuslich, Christine D. 1999

机译：人类遗传疾病的多种机制：COL1A2基因的剪接顺序确定。影响成骨不全症中剪接位点突变和易位破坏SNRPN基因的效应会导致Prader-Willi综合征。
6. A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia [O] . Akie Nakamura, Tomoyuki Hostubo, Wakako Jo, 2011

机译：假性甲状旁腺功能减退症Ia患者GNAS基因的新型剪接突变
7. A positive genotype–phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo‐pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene [O] . Susanne Thiele, Ralf Werner, Joachim Grötzinger, 2014

机译：在伪症症型IA和伪伪症状的患者患者中的阳性基因型 - 表型相关性和GNA基因中的33种新发现的突变

A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia

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