premature ovarian failure 2B

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premature ovarian failure 2B2016-11-27T20:40:38+00:00

premature ovarian failure 2B

REPRODUCTION

An ovarian disorder (OMIM:300604) defined as the cessation of ovarian function under age 40, and characterised by oligo- or amenorrhoea, elevated serum gonadotropins and low oestradiol.

Molecular pathology A point mutation in POF1B, which encodes a protein that binds to non-muscle actin filaments, disrupts the normal binding of POF1B to non-muscle actin filaments, causing premature ovarian failure—2B.

References http://www.uniprot.org/uniprot/Q8WVV4

http://www.omim.org/entry/300604

 

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