(Q30985374)

28 June 2017

title

Human genes containing polymorphic trinucleotide repeats (English)

1 reference

28 June 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:1345166

16 September 2022

DNA library

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:1345166

16 September 2022

author name string

G. J. Riggins

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:1345166

16 September 2022

L. K. Lokey

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:1345166

16 September 2022

J. L. Chastain

3

1 reference

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16 September 2022

H. A. Leiner

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:1345166

16 September 2022

S. L. Sherman

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:1345166

16 September 2022

K. D. Wilkinson

6

1 reference

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16 September 2022

S. T. Warren

7

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16 September 2022

language of work or name

English

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publication date

1 November 1992

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28 June 2017

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28 June 2017

volume

2

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28 June 2017

issue

3

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28 June 2017

page(s)

186-191

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

28 June 2017

cites work

1 reference

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

21 January 2018

1 reference

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

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

Is environmental carcinogenesis modulated by host polymorphism?

21 January 2018

1 reference

Characterization of the BCR promoter in Philadelphia chromosome-positive and -negative cell lines

21 January 2018

1 reference

Sodium-Potassium-ATPase and Obesity

21 January 2018

1 reference

Erythrocyte Sodium-Potassium-ATPase and Sodium Transport in Obesity

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

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

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

The marker (X) syndrome: a cytogenetic and genetic analysis

1 reference

7 January 2021

Further segregation analysis of the fragile X syndrome with special reference to transmitting males

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

Unstable DNA sequence in myotonic dystrophy

1 reference

7 January 2021

Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy

1 reference

7 January 2021

Gene organization of the small subunit of human calcium-activated neutral protease

1 reference

7 January 2021

Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases

1 reference

7 January 2021

Trinucleotide repeat polymorphism at the human transcription factor IID gene

1 reference

7 January 2021

Variation among human 28S ribosomal RNA genes

1 reference

7 January 2021

The presence of a reduced amount of 32-kd "protective" protein is a distinct biochemical finding in late infantile galactosialidosis

1 reference

7 January 2021

Galactosialidosis: molecular heterogeneity in biosynthesis and processing of protective protein for beta-galactosidase

1 reference

7 January 2021

Report of the committee on cytogenetic markers

1 reference

7 January 2021

Evidence of founder chromosomes in fragile X syndrome

1 reference

7 January 2021

Sodium-Potassium-ATPase Activity Is Influenced by Ethnic Origin and Not by Obesity

1 reference

7 January 2021

The sodium pump needs its beta subunit

1 reference

7 January 2021

The human glutathione S-transferases: a case-control study of the incidence of the GST1 0 phenotype in patients with adenocarcinoma.

1 reference

7 January 2021

Human N-cadherin: nucleotide and deduced amino acid sequence

1 reference

7 January 2021

Characterization of two genes for the human Na,K-ATPase beta subunit

1 reference

7 January 2021

Identification of two novel members of erbA superfamily by molecular cloning: the gene products of the two are highly related to each other

1 reference

7 January 2021

Unique organization of the human BCR gene promoter

1 reference

7 January 2021

N-cadherin gene maps to human chromosome 18 and is not linked to the E-cadherin gene

1 reference

7 January 2021

Chromosomal localization of human Na , K -ATPase alpha- and beta-subunit genes

1 reference

7 January 2021

Four genes for the calpain family locate on four distinct human chromosomes

1 reference

7 January 2021

The gene encoding human protective protein (PPGB) is on chromosome 20

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG1192-186

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28 June 2017

1 reference