PTRH2 gene mutation causes progressive congenital skeletal muscle pathology.

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PTRH2 gene mutation causes progressive congenital skeletal muscle pathology.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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PTRH2 gene mutation causes progressive congenital skeletal muscle pathology.

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PTRH2 gene mutation causes progressive congenital skeletal muscle pathology.

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PTRH2 gene mutation causes progressive congenital skeletal muscle pathology.

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P1476

PTRH2 gene mutation causes progressive congenital skeletal muscle pathology.

@en

P2093

Genevieve S Griffiths

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

Hao Hu

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Jinger Doe

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Mayumi Jijiwa

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Michelle L Matter

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Michelle de la Vega

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Pam Van Ry

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Pamela Barraza

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Tatiana M Fontelonga

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Vivian Cruz

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P2860

Bit-1 mediates integrin-dependent cell survival through activation of the NFkappaB pathway

A mitochondrial protein, Bit1, mediates apoptosis regulated by integrins and Groucho/TLE corepressors

Mutations in the integrin alpha7 gene cause congenital myopathy

Absence of integrin alpha 7 causes a novel form of muscular dystrophy

Altered expression of the alpha7beta1 integrin in human and murine muscular dystrophies

Identification of cell signaling molecules by expression cloning.

The alpha7beta1 integrin in muscle development and disease.

Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness.

Bit-1 is an essential regulator of myogenic differentiation.

Deletion of integrin-linked kinase from skeletal muscles of mice resembles muscular dystrophy due to alpha 7 beta 1-integrin deficiency.

P304

1458-1464

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P31

scholarly article

P356

10.1093/HMG/DDX048

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P433

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P478

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P50

Dean Burkin

Angela Kaindl

Joe W. Ramos

P577

2017-02-08T00:00:00Z

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P698

28175314

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P921

birth defect

P932

6075508

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