Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients
about
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorderIdentification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disordersPeripheral nervous system defects in a mouse model for peroxisomal biogenesis disorders.AthPEX10, a nuclear gene essential for peroxisome and storage organelle formation during Arabidopsis embryogenesis.Neuropathology of brain and spinal malformations in a case of monosomy 1p36.Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.Domain mapping of human PEX5 reveals functional and structural similarities to Saccharomyces cerevisiae Pex18p and Pex21p.Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report.Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.
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P2860
Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients
description
2000 nî lūn-bûn
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年论文
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name
Phenotype-genotype relationshi ...... e biogenesis disorder patients
@ast
Phenotype-genotype relationshi ...... e biogenesis disorder patients
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Phenotype-genotype relationshi ...... e biogenesis disorder patients
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Phenotype-genotype relationshi ...... e biogenesis disorder patients
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label
Phenotype-genotype relationshi ...... e biogenesis disorder patients
@ast
Phenotype-genotype relationshi ...... e biogenesis disorder patients
@en
Phenotype-genotype relationshi ...... e biogenesis disorder patients
@en-gb
Phenotype-genotype relationshi ...... e biogenesis disorder patients
@nl
prefLabel
Phenotype-genotype relationshi ...... e biogenesis disorder patients
@ast
Phenotype-genotype relationshi ...... e biogenesis disorder patients
@en
Phenotype-genotype relationshi ...... e biogenesis disorder patients
@en-gb
Phenotype-genotype relationshi ...... e biogenesis disorder patients
@nl
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Phenotype-genotype relationshi ...... e biogenesis disorder patients
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P2860
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10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-#
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2000-01-01T00:00:00Z