[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1038/ng1295-382; PubMed=7493017 [NCBI, ExPASy, EBI, Israel, Japan]
Imbeaud S.,
Faure E.,
Lamarre I.,
Mattei M.-G.,
di Clemente N.,
Tizard R.,
Carre-Eusebe D.,
Belville C.,
Tragethon L.,
Tonkin C.,
Nelson J.,
McAuliffe M.,
Bidart J.-M.,
Lababidi A.,
Josso N.,
Cate R.L.,
Picard J.-Y.;
"Insensitivity to anti-Muellerian hormone due to a mutation in the human anti-Muellerian hormone receptor.";
Nat. Genet. 11:382-388(1995).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1006/bbrc.1995.2567; PubMed=7488027 [NCBI, ExPASy, EBI, Israel, Japan]
Visser J.A.,
McLuskey A.,
van Beers T.,
Weghuis D.O.,
van Kessel A.G.,
Grootegoed J.A.,
Themmen A.P.N.;
"Structure and chromosomal localization of the human anti-Muellerian hormone type II receptor gene.";
Biochem. Biophys. Res. Commun. 215:1029-1036(1995).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Testis;
PubMed=10589763 [NCBI, ExPASy, EBI, Israel, Japan]
Masiakos P.T.,
MacLaughlin D.T.,
Maheswaran S.,
Teixeira J.,
Fuller A.F. Jr.,
Shah P.C.,
Kehas D.J.,
Kenneally M.K.,
Dombkowski D.M.,
Ha T.U.,
Preffer F.I.,
Donahoe P.K.;
"Human ovarian cancer, cell lines, and primary ascites cells express the human Muellerian inhibiting substance (MIS) type II receptor, bind, and are responsive to MIS.";
Clin. Cancer Res. 5:3488-3499(1999).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[5]
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VARIANTS PMDS-2 CYS-54; VAL-142; GLN-282; GLY-426; 444-LEU--GLU-452 DEL; ALA-458; HIS-491 AND CYS-504.
DOI=10.1093/hmg/5.9.1269; PubMed=8872466 [NCBI, ExPASy, EBI, Israel, Japan]
Imbeaud S.,
Belville C.,
Messika-Zeitoun L.,
Rey R.,
di Clemente N.,
Josso N.,
Picard J.-Y.;
"A 27 base-pair deletion of the anti-Muellerian type II receptor gene is the most common cause of the persistent Muellerian duct syndrome.";
Hum. Mol. Genet. 5:1269-1277(1996).
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[6]
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VARIANT PMDS-2 GLN-406.
DOI=10.1210/jc.86.9.4390; PubMed=11549681 [NCBI, ExPASy, EBI, Israel, Japan]
Messika-Zeitoun L.,
Gouedard L.,
Belville C.,
Dutertre M.,
Lins L.,
Imbeaud S.,
Hughes I.A.,
Picard J.-Y.,
Josso N.,
di Clemente N.;
"Autosomal recessive segregation of a truncating mutation of anti-Muellerian type II receptor in a family affected by the persistent Muellerian duct syndrome contrasts with its dominant negative activity in vitro.";
J. Clin. Endocrinol. Metab. 86:4390-4397(2001).
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