[HTML][HTML] The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome
SD Quaynor, HG Kim, EM Cappello, T Williams… - Fertility and sterility, 2011 - Elsevier
OBJECTIVE: To determine the prevalence of digenic mutations in patients with idiopathic
hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS). DESIGN: Molecular
analysis of DNA in IHH/KS patients. SETTING: Academic medical center. PATIENT (S):
Twenty-four IHH/KS patients with a known mutation (group 1) and 24 IHH/KS patients with
no known mutation (group 2). INTERVENTION (S): DNA from IHH/KS patients was subjected
to polymerase chain reaction–based DNA sequencing of the 13 most common genes (KAL1 …
hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS). DESIGN: Molecular
analysis of DNA in IHH/KS patients. SETTING: Academic medical center. PATIENT (S):
Twenty-four IHH/KS patients with a known mutation (group 1) and 24 IHH/KS patients with
no known mutation (group 2). INTERVENTION (S): DNA from IHH/KS patients was subjected
to polymerase chain reaction–based DNA sequencing of the 13 most common genes (KAL1 …
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