Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion.

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Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies

P2860

Q34399213-D055F8D2-4E2E-445E-A874-7FB00B5795FA

P2860

Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion.

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http://www.wikidata.org/entity/Q43643101

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2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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name

Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion.

@en

Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion.

@nl

type

Item

label

Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion.

@en

Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion.

@nl

prefLabel

Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion.

@en

Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion.

@nl

P1476

Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion.

@en

P2093

Christian Wilhelm

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

Tim W Rattay

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

P2860

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds

A common beta hexosaminidase gene mutation in adult Sandhoff disease patients

Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.

Lysosomal storage diseases.

Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.

A polymerase chain reaction-based genotyping assay for detecting a novel Sandhoff disease-causing mutation.

P304

628-629

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P31

scholarly article

P356

10.3109/21678421.2013.812662

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P433

7-8

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

P478

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

P50

Ludger Schöls

Matthis Synofzik

P577

2013-07-25T00:00:00Z

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

P5875

252324221

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P698

23886397

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

P921

spinal muscular atrophy

Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion.

about

P2860

P2860

Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P921

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P921