Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease.

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Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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Identification of a Missense M ...... ese Family with Fabry Disease.

@en

Identification of a Missense M ...... ese Family with Fabry Disease.

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label

Identification of a Missense M ...... ese Family with Fabry Disease.

@en

Identification of a Missense M ...... ese Family with Fabry Disease.

@nl

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Identification of a Missense M ...... ese Family with Fabry Disease.

@en

Identification of a Missense M ...... ese Family with Fabry Disease.

@nl

P1476

Identification of a Missense M ...... nese Family with Fabry Disease

@en

P2093

Hao Deng

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Hao Zhang

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

Hong Xia

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Hongbo Xu

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Jinzhong Yuan

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Jun Liu

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Xiong Deng

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P2860

Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene

Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease

Neurological complications of Anderson-Fabry disease.

A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing

Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree.

High incidence of later-onset fabry disease revealed by newborn screening

Structural basis of Fabry disease.

Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.

Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

P304

70-75

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P31

scholarly article

P356

10.2174/1389202918666170915155033

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P433

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P478

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P50

Yuan Wu

P577

2018-01-01T00:00:00Z

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P698

29491734

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P932

5817879

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