coloboma/proline

Povezava se shrani v odložišče

ČlankiKliničnih preskušanjPatenti

Izberite vrsto razvrščanja

3 rezultatov

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

Human congenital cataract and ocular anterior segment dysgenesis both demonstrate extensive genetic and phenotypic heterogeneity. We identified a family where ocular developmental abnormalities (cataract, anterior segment dysgenesis and microphthalmia) co-segregated with a translocation,

Mouse and human SHPS-1: molecular cloning of cDNAs and chromosomal localization of genes.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

SHPS-1 (SHP substrate-1) is a glycosylated receptor-like protein with three immunoglobulin-like domains in its extracellular region and four YXX(L/V/I) motifs, potential tyrosine phosphorylation and SRC homology 2 (SH2) domain binding sites, in its cytoplasmic region. Various mitogens and cell

De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

PRR12 encodes a proline-rich protein nuclear factor suspected to be involved in neural development. Its nuclear expression in fetal brains and in the vision system supports its role in brain and eye development more specifically. However, its function and potential role in human disease has not been

Pridružite se naši
facebook strani

Herbal & Natural Medicine

Najbolj popolna baza zdravilnih zelišč, podprta z znanostjo

Deluje v 55 jezikih
Zeliščna zdravila, podprta z znanostjo
Prepoznavanje zelišč po sliki
Interaktivni GPS zemljevid - označite zelišča na lokaciji (kmalu)
Preberite znanstvene publikacije, povezane z vašim iskanjem
Iščite zdravilna zelišča po njihovih učinkih
Organizirajte svoje interese in bodite na tekočem z raziskavami novic, kliničnimi preskušanji in patenti

Vnesite simptom ali bolezen in preberite o zeliščih, ki bi lahko pomagala, vnesite zelišče in si oglejte bolezni in simptome, proti katerim se uporablja.
* Vse informacije temeljijo na objavljenih znanstvenih raziskavah