Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease
about
Vitamin A Transport Mechanism of the Multitransmembrane Cell-Surface Receptor STRA6Retinoids and Retinal Diseases.Accelerated Skeletal Maturation in Disorders of Retinoic Acid Metabolism: A Case Report and Focused Review of the Literature.The Lipocalin LPR-1 Cooperates with LIN-3/EGF Signaling To Maintain Narrow Tube Integrity in Caenorhabditis elegans.Transport of vitamin A across blood-tissue barriers is facilitated by STRA6.Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.Parental Mosaicism in Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia
P2860
Q26783584-2A86D1A0-D8D6-4DC0-9689-982F5C0D6F11Q37462838-AA4DFAF4-CC4A-4675-A6B1-E19CD624A7EDQ38944874-5F8D0B82-2C8E-4882-A257-265EE2F4A5A9Q39045655-8436C5B2-366C-43AC-9386-B6CCBE7340B9Q42386094-D684419D-5C32-4866-A93B-2636F1ACF2BDQ46529868-22CC7CF1-EB56-4469-8B4C-E81D1E0E3BBFQ47100462-73B2EF93-51BE-4F62-9299-2533E9EACB08Q58606293-D0B7C772-6E7A-48E0-B4AE-FB98C6802B2C
P2860
Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease
description
2015 nî lūn-bûn
@nan
2015 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Biochemical Basis for Dominant ...... in RBP4 Congenital Eye Disease
@ast
Biochemical Basis for Dominant ...... in RBP4 Congenital Eye Disease
@en
Biochemical Basis for Dominant ...... in RBP4 Congenital Eye Disease
@nl
type
label
Biochemical Basis for Dominant ...... in RBP4 Congenital Eye Disease
@ast
Biochemical Basis for Dominant ...... in RBP4 Congenital Eye Disease
@en
Biochemical Basis for Dominant ...... in RBP4 Congenital Eye Disease
@nl
prefLabel
Biochemical Basis for Dominant ...... in RBP4 Congenital Eye Disease
@ast
Biochemical Basis for Dominant ...... in RBP4 Congenital Eye Disease
@en
Biochemical Basis for Dominant ...... in RBP4 Congenital Eye Disease
@nl
P2093
P2860
P1433
P1476
Biochemical Basis for Dominant ...... in RBP4 Congenital Eye Disease
@en
P2093
Adele Schneider
Christine Nelson
Christopher M Chou
Jonathan T Pribila
Sean Woods
Susan A Tarlé
Tanya Bardakjian
Tom Glaser
P2860
P304
P356
10.1016/J.CELL.2015.03.006
P407
P577
2015-04-23T00:00:00Z