(Q51003913)

26 March 2018

title

FRAXE mutation analysis in three Spanish families (English)

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26 March 2018

author name string

Carbonell P

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26 March 2018

López I

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26 March 2018

Gabarrón J

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26 March 2018

Bernabé MJ

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26 March 2018

Lucas JM

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26 March 2018

Guitart M

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26 March 2018

Gabau E

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26 March 2018

Glover G

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26 March 2018

publication date

1 August 1996

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American Journal of Medical Genetics Part A

published in

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volume

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26 March 2018

issue

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26 March 2018

page(s)

434-440

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26 March 2018

Somatic instability of CTG repeat in myotonic dystrophy

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C434%3A%3AAID-AJMG40%3E3.0.CO%3B2-D

Fragile X mental retardation and the iduronate sulphatase locus: testing Laird's model of fra(X) inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C434%3A%3AAID-AJMG40%3E3.0.CO%3B2-D

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C434%3A%3AAID-AJMG40%3E3.0.CO%3B2-D

FRAXE and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C434%3A%3AAID-AJMG40%3E3.0.CO%3B2-D

Absence of expression of the FMR-1 gene in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C434%3A%3AAID-AJMG40%3E3.0.CO%3B2-D

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C434%3A%3AAID-AJMG40%3E3.0.CO%3B2-D

Characterisation of a new rare fragile site easily confused with the fragile X

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C434%3A%3AAID-AJMG40%3E3.0.CO%3B2-D

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C434%3A%3AAID-AJMG40%3E3.0.CO%3B2-D

Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C434%3A%3AAID-AJMG40%3E3.0.CO%3B2-D

10.1002/(SICI)1096-8628(19960809)64:2<434::AID-AJMG40>3.0.CO;2-D

21 January 2018

Identifiers

DOI

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26 March 2018

1 reference

26 March 2018