Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment.

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Charcot-marie-tooth disease and related neuropathies: molecular basis for distinction and diagnosis.

P2860

Q33748114-F6981745-A23E-4548-931C-01FCB3DFF07E

P2860

Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment.

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http://www.wikidata.org/entity/Q42667026

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1998 nî lūn-bûn

@nan

1998年の論文

@ja

1998年論文

@yue

1998年論文

@zh-hant

1998年論文

@zh-hk

1998年論文

@zh-mo

1998年論文

@zh-tw

1998年论文

@wuu

1998年论文

@zh

1998年论文

@zh-cn

name

Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment.

@en

Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment.

@nl

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Item

label

Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment.

@en

Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment.

@nl

prefLabel

Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment.

@en

Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment.

@nl

P1476

Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment.

@en

P2093

Benito A

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Berciano J

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Combarros O

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Fernández-Luna JL

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Oterino A

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P2860

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.

Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP.

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

P304

962-963

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scholarly article

P356

10.1136/JMG.35.11.962

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P407

English

P433

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P478

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

P577

1998-11-01T00:00:00Z

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P5875

13454821

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P698

9832048

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P932

1051497

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Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment.

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P2860

P2860

Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment.

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type

label

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P5875

P698

P932