H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase Deficiency

Keisuke Nagasaki; Takeshi Usui; Tadashi Asami; Yohei Ogawa; Toru Kikuchi; Makoto Uchiyama

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H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase Deficiency

机译：CYP21A2的H62L突变被鉴定为非经典形式的21-羟化酶缺乏症。

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《Clinical Pediatric Endocrinology》 |2009年第4期|共3页
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Keisuke Nagasaki; Takeshi Usui; Tadashi Asami; Yohei Ogawa; Toru Kikuchi; Makoto Uchiyama;
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机译：马其顿语和塞尔维亚语21羟化酶缺乏症患者CYP21A2点突变的直接分子诊断/马其顿语和塞尔维亚语21羟化酶缺乏症患者CYP21A2点突变的直接分子诊断
2. CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation. [J] . Abid F, Tardy V, Gaouzi A, Clinical chemistry and laboratory medicine: CCLM . 2008,第12期

机译：摩洛哥典型21-羟化酶缺乏症患者的CYP21A2基因突变分析：p.Q318X突变的高区域患病率和新p.L353R突变的鉴定。
3. Functional consequences of a novel point mutation in the CYP21A2 gene identified in a Chinese Han patient with nonclassic 21-hydroxylase deficiency [J] . ChuX., DingH., CuiG., Clinical Endocrinology . 2014,第6期

机译：在中国非典型21-羟化酶缺乏症的汉族患者中发现的CYP21A2基因新颖点突变的功能后果
4. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency A paradigm for prenatal diagnosis and treatment [C] . Saroj Nimkarn, Maria I. New Conference on Skeletal Biology and Medicine . 2010

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5. Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2 [D] . 鈴木幸子 2019

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6. H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase Deficiency [O] . Keisuke Nagasaki, Takeshi Usui, Tadashi Asami, 2009

机译：CYP21A2的H62L突变被鉴定为非经典形式的21-羟化酶缺乏症。
7. H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase Deficiency [O] . Keisuke Nagasaki, Takeshi Usui, Tadashi Asami, 2009

机译：以非古典形式的21-羟化酶缺乏鉴定的CYP21A2的H62L突变

H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase Deficiency

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