Diagnostic strategy for familial and sporadic cases of neuropathy associated with 17p11.2 deletion (Q58184616)

1

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Antonio García

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Onofre Combarros

3

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José I. Mateo

4

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José Berciano

5

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María J. Sedano

6

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Eduardo J. Gutiérrez-Rivas

Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies

7

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publication date

2 August 2001

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published in

Muscle and Nerve

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volume

24

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issue

9

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page(s)

1149-1155

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cites work

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Clinical, genetic and electrophysiologic correlation in hereditary neuropathy with liability to pressure palsies with involvement of PMP22 gene at chromosome 17p11.2

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Polymorphisms in the PMP-22 gene region (17p11.2-12) are crucial for simplified diagnosis of duplications/deletions.

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Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies

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Tomaculous neuropathy: a clinical and electrophysiological study in patients with and without 1.5-Mb deletions in chromosome 17p11.2.

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