Further evidence for a fourth gene causing X-linked pure spastic paraplegia.

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http://www.wikidata.org/entity/Q44124711

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2002 nî lūn-bûn

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2002年の論文

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2002年学术文章

@wuu

2002年学术文章

@zh-cn

2002年学术文章

@zh-hans

2002年学术文章

@zh-my

2002年学术文章

@zh-sg

2002年學術文章

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2002年學術文章

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2002年學術文章

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name

Further evidence for a fourth gene causing X-linked pure spastic paraplegia.

@en

Further evidence for a fourth gene causing X-linked pure spastic paraplegia.

@nl

type

Item

label

Further evidence for a fourth gene causing X-linked pure spastic paraplegia.

@en

Further evidence for a fourth gene causing X-linked pure spastic paraplegia.

@nl

prefLabel

Further evidence for a fourth gene causing X-linked pure spastic paraplegia.

@en

Further evidence for a fourth gene causing X-linked pure spastic paraplegia.

@nl

P1476

Further evidence for a fourth gene causing X-linked pure spastic paraplegia.

@en

P2093

Cambi F

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Hobson GM

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Passos Bueno MR

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Rocco P

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Starling A

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P2860

Myotilin is mutated in limb girdle muscular dystrophy 1A

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12

Strategies for multilocus linkage analysis in humans

A simple salting out procedure for extracting DNA from human nucleated cells

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy

Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD

P304

152-156

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scholarly article

P356

10.1002/AJMG.10551

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P433

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P478

111

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P50

Mayana Zatz

P577

2002-08-01T00:00:00Z

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P698

12210342

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