Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports.
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Catalytically Active Guanylyl Cyclase B Requires Endoplasmic Reticulum-mediated Glycosylation, and Mutations That Inhibit This Process Cause DwarfismThe Absence of Sensory Axon Bifurcation Affects Nociception and Termination Fields of Afferents in the Spinal Cord.Skeletal overgrowth-causing mutations mimic an allosterically activated conformation of guanylyl cyclase-B that is inhibited by 2,4,6,-trinitrophenyl ATP.
P2860
Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports.
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Acromesomelic dysplasia, type ...... NPR2 gene: Three case reports.
@en
Acromesomelic dysplasia, type ...... NPR2 gene: Three case reports.
@nl
type
label
Acromesomelic dysplasia, type ...... NPR2 gene: Three case reports.
@en
Acromesomelic dysplasia, type ...... NPR2 gene: Three case reports.
@nl
prefLabel
Acromesomelic dysplasia, type ...... NPR2 gene: Three case reports.
@en
Acromesomelic dysplasia, type ...... NPR2 gene: Three case reports.
@nl
P2093
P2860
P356
P1476
Acromesomelic dysplasia, type ...... NPR2 gene: Three case reports
@en
P2093
Dong Kyu Jin
Keiichi Ozono
Kohji Miura
Makoto Fujiwara
Mi Hyun Song
Nobutoshi Nawa
Noriyuki Namba
Ok Hwa Kim
Taichi Kitaoka
Takuo Kubota
P2860
P304
P356
10.1002/AJMG.A.37463
P407
P577
2015-11-14T00:00:00Z