Autosomal recessive segregation of a truncating mutation of anti-Müllerian type II receptor in a family affected by the persistent Müllerian duct syndrome contrasts with its dominant negative activity in vitro.
about
Anti-Müllerian hormone recruits BMPR-IA in immature granulosa cells.A single base pair mutation encoding a premature stop codon in the MIS type II receptor is responsible for canine persistent Müllerian duct syndrome.A dominant negative mutation at the ATP binding domain of AMHR2 is associated with a defective anti-Müllerian hormone signaling pathway.Proteome-wide analysis of nonsynonymous single-nucleotide variations in active sites of human proteins.
P2860
Autosomal recessive segregation of a truncating mutation of anti-Müllerian type II receptor in a family affected by the persistent Müllerian duct syndrome contrasts with its dominant negative activity in vitro.
description
2001 nî lūn-bûn
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2001年の論文
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2001年学术文章
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2001年学术文章
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name
Autosomal recessive segregatio ...... nt negative activity in vitro.
@en
type
label
Autosomal recessive segregatio ...... nt negative activity in vitro.
@en
prefLabel
Autosomal recessive segregatio ...... nt negative activity in vitro.
@en
P2093
P356
P1476
Autosomal recessive segregatio ...... nt negative activity in vitro.
@en
P2093
Belville C
Dutertre M
Gouédard L
Messika-Zeitoun L
di Clemente N
P304
P356
10.1210/JC.86.9.4390
P407
P577
2001-09-01T00:00:00Z