A substitution of arginine to lysine at the COOH-terminus of MIP caused a different binocular phenotype in a congenital cataract family.

scientific article published on 30 September 2007

A substitution of arginine to lysine at the COOH-terminus of MIP caused a different binocular phenotype in a congenital cataract family. is …
instance of (P31):
scholarly articleQ13442814

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P698PubMed publication ID17960133

P2093author name stringJ Fielding Hejtmancik
Hui Lin
Yanhua Qi
P921main subjectphenotypeQ104053
P304page(s)1822-1827
P577publication date2007-09-30
P1433published inMolecular VisionQ6895981
P1476titleA substitution of arginine to lysine at the COOH-terminus of MIP caused a different binocular phenotype in a congenital cataract family
P478volume13

Reverse relations

cites work (P2860)
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Q37326919A novel donor splice-site mutation of major intrinsic protein gene associated with congenital cataract in a Chinese family
Q41245001A novel missense mutation of Mip causes semi-dominant cataracts in the Nat mouse
Q34493831A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family
Q35024324A novel mutation in the MIP gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.
Q33758626A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family
Q35213915A novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family
Q35738860AKAP2 anchors PKA with aquaporin-0 to support ocular lens transparency.
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Q35158256Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP.
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Q36777942Phosphorylation determines the calmodulin-mediated Ca2+ response and water permeability of AQP0
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Q64913346The carboxy-terminus, a key regulator of protein function.
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