Clinical utility gene card for: Zellweger syndrome spectrum.

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Clinical utility gene card for: Zellweger syndrome spectrum.

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2014 nî lūn-bûn

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2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

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2014年論文

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2014年論文

@zh-tw

2014年论文

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2014年论文

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2014年论文

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name

Clinical utility gene card for: Zellweger syndrome spectrum.

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Clinical utility gene card for: Zellweger syndrome spectrum.

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label

Clinical utility gene card for: Zellweger syndrome spectrum.

@en

Clinical utility gene card for: Zellweger syndrome spectrum.

@nl

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Clinical utility gene card for: Zellweger syndrome spectrum.

@en

Clinical utility gene card for: Zellweger syndrome spectrum.

@nl

P1476

Clinical utility gene card for: Zellweger syndrome spectrum.

@en

P2093

Andreas Ohlenbusch

http://www.w3.org/2001/XMLSchema#string

Bwee Tien Poll-The

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Hans Waterham

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Jutta Gärtner

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P2860

Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency

A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents

Peroxisome biogenesis disorders

The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum

A FAMILIAL SYNDROME OF MULTIPLE CONGENITAL DEFECTS.

Rational diagnostic strategy for Zellweger syndrome spectrum patients

Mutations in PEX10 are a cause of autosomal recessive ataxia.

Genetics and molecular basis of human peroxisome biogenesis disorders.

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.

P2888

ejhg.2014.250

P31

scholarly article

P356

10.1038/EJHG.2014.250

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P433

http://www.w3.org/2001/XMLSchema#string

P478

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P50

H Rosewich

P577

2014-11-19T00:00:00Z

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P698

25407003

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P932

4795113

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