Mutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats.
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Advanced technologies for the molecular diagnosis of fragile X syndromeG-quadruplex nucleic acids and human diseaseIntragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.Finding FMR1 mosaicism in Fragile X syndrome.Fragile X syndrome and fragile X-associated disorders.Mutational analyses of the FMR1 gene in Chinese pediatric population of fragile x suspects: low tolerance for point mutation.Severe Hunter syndrome (mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2).
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Mutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats.
description
article científic
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article scientifique
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articolo scientifico
@it
artigo científico
@pt
bilimsel makale
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scientific article published on 28 October 2008
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Mutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats.
@en
Mutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats.
@nl
type
label
Mutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats.
@en
Mutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats.
@nl
prefLabel
Mutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats.
@en
Mutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats.
@nl
P2860
P356
P1476
Mutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats.
@en
P2093
Robert D Wells
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P304
P356
10.1074/JBC.R800024200
P407
P577
2008-10-28T00:00:00Z