X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers

Since only 20% of female fragile X premutation carriers develop premature ovarian failure (POF, i.e., amenorrhea before age of 40 years), and since X chromosome inactivation (XCI) determines the phenotypic severity of full mutation women, we reasoned that the development of POF in fragile X premutat...

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Veröffentlicht in:	American journal of medical genetics. Part A 2010-02, Vol.152A (2), p.387-393
Hauptverfasser:	Spath, Marian A., Nillesen, Willy N., Smits, Arie P.T., Feuth, Ton B., Braat, Didi D.M., van Kessel, Ad Geurts, Yntema, Helger G.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Age Factors Chromosomes, Human, X Cohort Studies Female Fragile X Mental Retardation Protein - genetics fragile X premutation Fragile X Syndrome - genetics Heterozygote Humans Incidence Karyotyping Middle Aged Phenotype premature ovarian failure Primary Ovarian Insufficiency - genetics skewing X Chromosome Inactivation
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