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Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

机译：38个与PLP1相关疾病的家庭中PLP1基因的分子遗传分析：11个新型PLP1突变的鉴定和功能表征

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Serena Grossi; Stefano Regis; Roberta Biancheri; Matthew Mort; Susanna Lualdi; Enrico Bertini; Graziella Uziel; Odile Boespflug-Tanguy; Alessandro Simonati; Fabio Corsolini; Ercan Demir; Valentina Marchiani; Antonio Percesepe; Franco Stanzial; Andrea Rossi; Catherine Vaurs-Barrière; David N Cooper; Mirella Filocamo;
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1. Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations [J] . Serena Grossi, Stefano Regis, Roberta Biancheri, Orphanet journal of rare diseases . 2011,第S1期

机译：38个与PLP1相关疾病的家庭中PLP1基因的分子遗传分析：11个新型PLP1突变的鉴定和功能表征
2. Molecular genetic analysis of normosmic hypogonadotropic hypogonadism in a Turkish population: identification and detailed functional characterization of a novel mutation in the gonadotropin-releasing hormone receptor gene. [J] . Topaloglu AK, Lu ZL, Farooqi IS, Neuroendocrinology: International Journal for Basic and Clinical Studies on Neuroendocrine Relationships . 2006,第5期

机译：土耳其人群中正常性性腺功能减退性腺功能减退症的分子遗传分析：促性腺激素释放激素受体基因中新突变的鉴定和详细功能表征。
3. Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families. [J] . Ventura C, Santos AI, Tavares A, Thrombosis and Haemostasis: Journal of the International Society on Thrombosis and Haemostasis . 2000,第5期

机译：XI因子缺乏症的分子遗传学分析：鉴定五个新基因改变以及葡萄牙家庭II型突变的起源。
4. Mutational analysis of CYP11 Al and Leptin as genetic determinants of hyperandrogenicity and obesity in PCOS: Study in an Indian Cohort Group [C] . Anurupa Maitra, Madhavi Pusalkar, Jyotsna Gokral, World Congress on Fertility and Sterility . 2004

机译：CYP11 Al和Leptin作为PCOS高衰变和肥胖遗传决定因素的突变分析：印度队列组的研究
5. Molecular genetics and characterisation of functional methionine synthase deficiency: Mutation analysis and gene cloning. [D] . Wilson, Aaron W. 1999

机译：功能性蛋氨酸合酶缺乏症的分子遗传学和表征：突变分析和基因克隆。
6. Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations [O] . Serena Grossi, Stefano Regis, Roberta Biancheri, 2011

机译：38个与PLP1相关疾病的家庭中PLP1基因的分子遗传分析：11个新型PLP1突变的鉴定和功能表征
7. Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations. [O] . Grossi S, Regis S, Biancheri R, 2011

机译：38个与PLP1相关疾病的家庭中PLP1基因的分子遗传分析：11个新PLP1突变的鉴定和功能表征。

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

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