Add to ORKGWe screened growth differentiation factor 9 (GDF9) coding regions for mutations in a Chinese sample of 100 women with premature ovarian failure (POF) and discovered 4 novel SNPs: c.436C>T (p.Arg146Cys), c.588A>C (silent), c.712A>G (p.Thr238Ala) and c.1283G>C (p.Ser428Thr). Non-synonymous SNPs c.436C>T and c.1283G>C were also detected in the control population. The c. 712A>G perturbation results in a missense mutation (p.Thr238Ala) and was not present in any of 96 controls. Substitution of the hydrophobic amino acid residue alanine for hydrophilic threonine may disrupt GDF9 function
Premature ovarian failure (POF) is genetically heterogeneous and manifests as hypergonadotropic hypo...
International audienceOvarian deficiency, including premature ovarian insufficiency (POI) and dimini...
Premature ovarian failure (POF) is genetically heterogeneous and manifests as hypergonadotropic hypo...
Premature ovarian failure (POF) is an heterogeneous disorder which affect 1% of women before 40 yea...
Objective: To establish the risk associated with mutations in the coding region of GDF9 gene in Indi...
Background and objective: Mutations in bone morphogenic protein 15 (BMP15) and growth/differen-tiati...
gene in a large cohort of Chinese women with non-syndromic POF. gene was performed in 400 Han Chine...
<div><p>Background</p><p>The etiology of most premature ovarian failure (POF) cases is usually elusi...
BACKGROUND: The etiology of most premature ovarian failure (POF) cases is usually elusive. Although ...
Premature ovarian failure (POF) is an unexplained amenorrhoea (>6 months) with raised levels of gona...
Background: The etiology of most premature ovarian failure (POF) cases is usually elusive. Although ...
Premature ovarian failure (POF) is a complex heritable disorder known to be caused by chromosomal ab...
Premature Ovarian Failure (POF) is a genetically heterogenous disorder that leads to hypergonadotrop...
PubMedID: 25480036Premature ovarian failure (POF) is genetically heterogeneous and manifests as hype...
Spontaneous premature ovarian failure (POF) occurs in 1% of women and has major implications for the...
Premature ovarian failure (POF) is genetically heterogeneous and manifests as hypergonadotropic hypo...
International audienceOvarian deficiency, including premature ovarian insufficiency (POI) and dimini...
Premature ovarian failure (POF) is genetically heterogeneous and manifests as hypergonadotropic hypo...
Premature ovarian failure (POF) is an heterogeneous disorder which affect 1% of women before 40 yea...
Objective: To establish the risk associated with mutations in the coding region of GDF9 gene in Indi...
Background and objective: Mutations in bone morphogenic protein 15 (BMP15) and growth/differen-tiati...
gene in a large cohort of Chinese women with non-syndromic POF. gene was performed in 400 Han Chine...
<div><p>Background</p><p>The etiology of most premature ovarian failure (POF) cases is usually elusi...
BACKGROUND: The etiology of most premature ovarian failure (POF) cases is usually elusive. Although ...
Premature ovarian failure (POF) is an unexplained amenorrhoea (>6 months) with raised levels of gona...
Background: The etiology of most premature ovarian failure (POF) cases is usually elusive. Although ...
Premature ovarian failure (POF) is a complex heritable disorder known to be caused by chromosomal ab...
Premature Ovarian Failure (POF) is a genetically heterogenous disorder that leads to hypergonadotrop...
PubMedID: 25480036Premature ovarian failure (POF) is genetically heterogeneous and manifests as hype...
Spontaneous premature ovarian failure (POF) occurs in 1% of women and has major implications for the...
Premature ovarian failure (POF) is genetically heterogeneous and manifests as hypergonadotropic hypo...
International audienceOvarian deficiency, including premature ovarian insufficiency (POI) and dimini...
Premature ovarian failure (POF) is genetically heterogeneous and manifests as hypergonadotropic hypo...