I型点状软骨发育不良的分子基础：38例患者中Leu-292终止突变的高频率 - Suppr

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超能文献

Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients.

作者信息

Brites P, Motley A, Hogenhout E, Hettema E, Wijburg F, Heijmans H S, Tabak H F, Distel B, Wanders R J

机构信息

University of Amsterdam, Academic Medical Centre, Department of Clinical Chemistry, The Netherlands.

出版信息

J Inherit Metab Dis. 1998 Jun;21(3):306-8. doi: 10.1023/a:1005301112923.

DOI:10.1023/a:1005301112923

PMID:9686382

Abstract

摘要

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Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients.I型点状软骨发育不良的分子基础：38例患者中Leu-292终止突变的高频率

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Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.人类PEX7编码过氧化物酶体PTS2受体，并与点状软骨发育不良相关。

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引用本文的文献

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.全外显子组测序揭示了导致1型点状软骨发育不良的不同种族PEX7突变的复合杂合性。

Case Rep Genet. 2015;2015:454526. doi: 10.1155/2015/454526. Epub 2015 Oct 26.

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本文引用的文献

Nat Genet. 1997 Apr;15(4):381-4. doi: 10.1038/ng0497-381.

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.肢根型点状软骨发育不良是一种由无功能的PTS2受体引起的过氧化物酶体蛋白靶向疾病。

Nat Genet. 1997 Apr;15(4):377-80. doi: 10.1038/ng0497-377.

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.人类PEX7编码过氧化物酶体PTS2受体，并与点状软骨发育不良相关。

Nat Genet. 1997 Apr;15(4):369-76. doi: 10.1038/ng0497-369.

How proteins penetrate peroxisomes.蛋白质如何穿透过氧化物酶体。

Cell. 1995 Nov 17;83(4):525-8. doi: 10.1016/0092-8674(95)90091-8.

Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata--a complementation study.点状软骨发育异常的近段型患者的遗传和生化异质性——一项互补研究

Hum Genet. 1992 Jun;89(4):439-44. doi: 10.1007/BF00194319.

Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis.与植烷酸蓄积和缩醛磷脂合成缺陷相关的骨发育异常：一种可进行血浆置换治疗的过氧化物酶体疾病。

J Inherit Metab Dis. 1992;15(3):377-80. doi: 10.1007/BF02435981.

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