首页> 外文OA文献 >Pyridoxine-Responsive Seizures as the First Symptom of Infantile Hypophosphatasia Caused by Two Novel Missense Mutations (c.677Tu3eC, p.M226T; c.1112Cu3eT, p.T371I) of the Tissue-nonspecific Alkaline Phosphatase Gene

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Pyridoxine-Responsive Seizures as the First Symptom of Infantile Hypophosphatasia Caused by Two Novel Missense Mutations (c.677Tu3eC, p.M226T; c.1112Cu3eT, p.T371I) of the Tissue-nonspecific Alkaline Phosphatase Gene

机译：吡哆醇反应性癫痫发作是由组织非特异性碱性磷酸酶基因的两个新的错义突变（c.677T u3eC，p.m226T; c.1112C u3eT，p.T371I）引起的婴儿低磷酸盐血症的第一个症状

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Baumgartner-Sigl S.; Haberlandt E.; Mumm S.; Scholl-Burgi S.; Sergi C.; Ryan L.; Ericson Karen L.; Whyte Michael P.;
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1. Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene. [J] . Mochizuki H, Saito M, Michigami T, European journal of pediatrics . 2000,第5期

机译：由组织非特异性碱性磷酸酶基因的两个新突变引起的与婴儿低磷血症相关的严重高钙血症和呼吸功能不全。
2. Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia. [J] . Brun-Heath I, Lia-Baldini AS, Maillard S, European journal of medical genetics . 2007,第5期

机译：具有错义突变的组织非特异性碱性磷酸酶的延迟运输会导致磷酸化不足。
3. Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report [J] . Kazunori Fukushima, Keiko Kawai-Kowase, Yukio Yonemoto, Journal of Medical Case Reports . 2019,第1期

机译：成人非磷酸化伴组织非特异性碱性磷酸酶基因中的复合杂合子p.Phe327Leu missense和c.1559delT移码突变
4. Structure of the human liver/bone/kidney alkaline phosphatase gene and the genetic basis for hypophosphatasia [D] . Weiss, Mitchell J. 1989

机译：人肝/骨/肾碱性磷酸酶基因的结构及低磷的遗传基础
5. Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report [O] . Kazunori Fukushima, Keiko Kawai-Kowase, Yukio Yonemoto, 2019

机译：在组织非特异性碱性磷酸酶基因中具有复合杂合子p.Phe327Leu missense和c.1559delT移码突变的成人低磷血症：一例报告
6. Characterization of Six Missense Mutations in the Tissue-Nonspecific Alkaline Phosphatase (TNSALP) Gene in Chinese Children with Hypophosphatasia [O] . Haiou Yang, Lili Wang, Juan Geng, 2013

机译：中国儿童低磷酸盐血症组织非特异性碱性磷酸酶（TNsaLp）基因六个错义突变的表征

Pyridoxine-Responsive Seizures as the First Symptom of Infantile Hypophosphatasia Caused by Two Novel Missense Mutations (c.677Tu3eC, p.M226T; c.1112Cu3eT, p.T371I) of the Tissue-nonspecific Alkaline Phosphatase Gene

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