机译:GNAQ突变R183Q作为家族风格综合征的潜在原因:案例报告
Peking Univ Shenzhen Hosp Dept Neurol 1120 Lianhua Rd Shenzhen 518036 Guangdong Peoples R;
Shenzhen Peking Univ Peking Univ Shenzhen Hosp Inst Urol Guangdong &
Shenzhen Key Lab Male;
Shenzhen Longhua New Dist Cent Hosp Dept Neurol Shenzhen 511180 Guangdong Peoples R China;
Peking Univ Shenzhen Hosp Dept Neurol 1120 Lianhua Rd Shenzhen 518036 Guangdong Peoples R;
Peking Univ Shenzhen Hosp Dept Neurol 1120 Lianhua Rd Shenzhen 518036 Guangdong Peoples R;
Peking Univ Shenzhen Hosp Dept Neurol 1120 Lianhua Rd Shenzhen 518036 Guangdong Peoples R;
Shenzhen Shekou Peoples Hosp Dept Neurol Shenzhen 518000 Guangdong Peoples R China;
Taizhou Municipal Hosp Dept Neurol Taizhou 318000 Zhejiang Peoples R China;
Shantou Univ Med Coll Shantou 515041 Guangdong Peoples R China;
Anhui Med Univ Hefei 230032 Anhui Peoples R China;
Guangzhou Med Univ Guangzhou 510182 Guangdong Peoples R China;
Shenzhen Peking Univ Peking Univ Shenzhen Hosp Inst Urol Guangdong &
Shenzhen Key Lab Male;
Peking Univ Shenzhen Hosp Dept Neurol 1120 Lianhua Rd Shenzhen 518036 Guangdong Peoples R;
Sanger sequencing; G protein subunit alpha q; substitution; localization;
机译:GNAQ突变R183Q作为家族风格综合征的潜在原因:案例报告
机译:由GNAQ GNAQ和SLC26A4 SLC26A4基因突变引起的大规模前庭患病综合征相关的斗葡萄酒污渍:案例报告
机译:Sturge-Weber综合征前躯体中的体细胞GNAQ突变
机译:散发性Sturge-Weber综合征患者中RASA1突变的检测
机译:对人类遗传变异的调查揭示了Sturge-Weber综合征和非综合征性波特酒色斑的基础。
机译:GNAQ突变R183Q可能是家族性Sturge-Weber综合征的病因:一例报告
机译:NSD1基因的新型错义突变与过度繁殖的意大利家庭的三代:病例报告,鉴别诊断和家族性索托斯综合征中NSD1基因突变的审查。