Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.

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Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.

P2860

Q38434135-C3926DDB-AE09-449C-8F15-47446A298B91

P2860

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.

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http://www.wikidata.org/entity/Q51742869

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2014 nî lūn-bûn

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2014年学术文章

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Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.

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Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.

@nl

type

Item

label

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.

@en

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.

@nl

prefLabel

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.

@en

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.

@nl

P1476

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.

@en

P2093

Adolfo López de Munain

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

Amets Sáenz

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

Leire Casas-Fraile

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

Margarita Azpitarte

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

Martin Krahn

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

Miren Zulaika

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

Nathalie Trevisiol

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Oihane Jaka

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Raúl Sanz

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Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

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Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

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Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome.

P304

448-453

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P31

scholarly article

P356

10.1002/MUS.24263

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P433

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

P478

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P50

Marc Bartoli

Nicolas Levy

Coro Paisán-Ruíz

P577

2014-08-05T00:00:00Z

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261513257

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P698

24715573

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Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.

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P2860

P2860

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.

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type

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P1433

P1476

P2093

P2860

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P356

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P50

P577

P5875

P698

P356

P1433

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P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698