(Q41579799)

4 October 2017

title

A point mutation in the FMR-1 gene associated with fragile X mental retardation (English)

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4 October 2017

De Boulle K

1

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4 October 2017

Verkerk AJ

2

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4 October 2017

Reyniers E

3

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4 October 2017

Vits L

4

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4 October 2017

Hendrickx J

5

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4 October 2017

Van Roy B

6

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4 October 2017

Van den Bos F

7

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4 October 2017

de Graaff E

8

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4 October 2017

Oostra BA

9

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4 October 2017

Willems PJ

10

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4 October 2017

language of work or name

English

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publication date

1 January 1993

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4 October 2017

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4 October 2017

volume

3

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4 October 2017

issue

1

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4 October 2017

page(s)

31-35

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Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

4 October 2017

cites work

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Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation

21 January 2018

1 reference

Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis

21 January 2018

1 reference

Fragile X syndrome without CCG amplification has an FMR1 deletion

21 January 2018

1 reference

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

21 January 2018

1 reference

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

21 January 2018

1 reference

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

21 January 2018

1 reference

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

7 January 2021

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

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7 January 2021

Fragile X genotype characterized by an unstable region of DNA.

1 reference

7 January 2021

Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome

1 reference

7 January 2021

Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island

1 reference

7 January 2021

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

1 reference

7 January 2021

Limited size of the fragile X site shown by fluorescence in situ hybridization

1 reference

7 January 2021

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

1 reference

7 January 2021

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

1 reference

7 January 2021

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

1 reference

7 January 2021

Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22

1 reference

7 January 2021

The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients

1 reference

7 January 2021

Regional mapping of a liver alpha-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome Xp

1 reference

7 January 2021

cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis

1 reference

7 January 2021

Improved fragile site detection with trimethoprim

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7 January 2021

The fragile X syndrome: isolation of the FMR-1 gene and characterization of the fragile X mutation

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG0193-31

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Dimensions Publication ID

4 October 2017

1018483390

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