16例先天性垂直非共同性斜视患者中未发现KIF21A和PHOX2A基因的突变。 - Suppr

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超能文献

Mutations in KIF21A and PHOX2A are absent in 16 patients with congenital vertical incomitant strabismus.

作者信息

Khan Arif O, Khalil Dania S, Al-Sharif Latifa J, Al-Tassan Nada A

出版信息

Ophthalmic Genet. 2009 Dec;30(4):206-7. doi: 10.3109/13816810903183613.

DOI:10.3109/13816810903183613

PMID:19852579

Abstract

摘要

相似文献

Mutations in KIF21A and PHOX2A are absent in 16 patients with congenital vertical incomitant strabismus.16例先天性垂直非共同性斜视患者中未发现KIF21A和PHOX2A基因的突变。

Ophthalmic Genet. 2009 Dec;30(4):206-7. doi: 10.3109/13816810903183613.

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The genetic basis of complex strabismus.复杂斜视的遗传基础。

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Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles.日本先天性眼外肌纤维化患者中KIF21A基因的复发性突变。

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Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2.ARIX（PHOX2A）基因的纯合突变会导致2型眼外肌先天性纤维化。

Nat Genet. 2001 Nov;29(3):315-20. doi: 10.1038/ng744.

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Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations.TWIST与FGFR3基因突变患者的眼部表型相关性

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Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).先天性眼外肌纤维化1型（CFEOM1）中驱动蛋白KIF21A的杂合突变。

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Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder.COL25A1 中的隐性突变是先天性颅神经发育障碍的一个原因。

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Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families.来自沙特阿拉伯近亲家庭的I型先天性眼外肌纤维化患者中缺乏KIF21A突变。

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