ABCC8 p.Val458Ala
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PMID: 8872466
[PubMed]
Imbeaud S et al: "A 27 base-pair deletion of the anti-mullerian type II receptor gene is the most common cause of the persistent mullerian duct syndrome."
No.
Sentence
Comment
123
Mutation V458A is located in insert 2 itself and D491H immediately precedes a proline which plays a key role in transphosphorylation of receptor type I (21).
X
ABCC8 p.Val458Ala 8872466:123:9
status: NEW