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CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets

机译：CLCN5突变Ser244Leu与X连锁的肾功能衰竭相关，而没有X连锁的隐性低磷酸盐血症性ets病

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Kelleher Catherine L.; Buckalew Vardaman M.; Frederickson Edward D.; Rhodes Donna J.; Conner David A.; Seidman Jonathan G.; Seidman Christine E.;
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1. CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets [J] . Catherine L Kelleher, Vardaman M Buckalew, Edward D Frederickson, Kidney international. . 1998,第1期

机译：CLCN5突变Ser244Leu与X连锁的肾功能衰竭相关，而没有X连锁的隐性低磷酸盐血症性ets病
2. PHEX 3 '-UTR c.*231A > G Near The Polyadenylation Signal is a Relatively Common, Mild, American Mutation That Masquerades as Sporadic or X-Linked Recessive Hypophosphatemic Rickets [J] . Mumm Steven, Huskey Margaret, Cajic Adela, Journal of bone and mineral research: the official journal of the American Society for Bone and Mineral Research . 2015,第1期

机译：PHEX 3'-UTR c。* 231A> G附近的聚腺苷酸信号是一种相对常见的轻度美国突变，可伪装成零星或X连锁隐性低磷酸盐血症cket
3. Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets. [J] . Clausmeyer S, Hesse V, Clemens PC Calcified tissue international. . 2009,第3期

机译：PHEX基因的突变分析：X连锁低磷病患者的新型点突变和MLPA检测大缺失。
4. Selection and mutation effects on equilibrium and stability of X-linked recessive diseases [C] . Francesca Verrilli, Hamed Kebriaei, Luigi Glielmo, IEEE Conference on Decision and Control . 2015

机译：选择和突变对X连锁隐性疾病平衡和稳定性的影响
5. Genetics of X-linked and autosomal recessive hereditary nephropathy in the domestic dog. [D] . Bell, Rebecca Jane. 2007

机译：X连锁和常染色体隐性遗传性肾病在家犬中的遗传学。
6. Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. [O] . I A Holm, X Huang, L M Kunkel 1997

机译：X连锁低磷酸盐血症性ets病患者PEX基因的突变分析。
7. PHEX3′-UTR c.*231A>G Near The Polyadenylation Signal Is a Relatively Common, Mild, American Mutation That Masquerades as Sporadic or X-Linked Recessive Hypophosphatemic Rickets [O] . Steven Mumm, Margaret Huskey, Adela Cajic, 2014

机译：phex3'-utr c. * 231a>聚亚苯基化信号附近的g是一种相对常见的温和，美洲突变，使得散摩诞或X键的隐性缺血性佝偻病伪装

CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets

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