X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.

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作者： Nicola,Brunetti-Pierri ^[1] ; Maria Vittoria,Andreucci ; Rosaria,Tuzzi ; Giovanna Roberta,Vega ; George,Gray ; Carol,McKeown ; Andrea,Ballabio ; Generoso,Andria ; Germana,Meroni ; Giancarlo,Parenti

作者单位： Department of Pediatrics, Federico II University, Naples, Italy. ^[1]

主题词氨基酸取代(Amino Acid Substitution);动物(Animals);芳基硫酸酯酶类(Arylsulfatases);COS细胞(COS Cells);点状软骨发育异常(Chondrodysplasia Punctata);DNA(DNA);DNA突变分析(DNA Mutational Analysis);基因, 隐性(Genes, Recessive);基因连锁(Genetic Linkage);人类(Humans);男(雄)性(Male);突变(Mutation);点突变(Point Mutation);X染色体(X Chromosome)

DOI 10.1002/ajmg.a.10950

PMID 12567415

发布时间 2022-01-29

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American journal of medical genetics. Part A

2003年117A卷2期

164-8页

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X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.

American journal of medical genetics. Part A

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American journal of medical genetics. Part A

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X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.

American journal of medical genetics. Part A

相似文献

American journal of medical genetics. Part A

相关期刊

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