ABCC8 p.Arg504Cys
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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
124
Missense mutations H282Q, D491H and R504C involve amino acids conserved in the receptor family.
X
ABCC8 p.Arg504Cys 8872466:124:36
status: NEW