Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway
about
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XIIArthrogryposis: a review and updateMutations in mRNA export mediator GLE1 result in a fetal motoneuron diseaseInherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2CReceptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coinRNA processing defects associated with diseases of the motor neuronThe ERBB3 receptor in cancer and cancer gene therapyMechanism of substrate specificity of phosphatidylinositol phosphate kinases.Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited.Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis.Exploring Missense Mutations in Tyrosine Kinases Implicated with Neurodegeneration.mRNA nuclear export and human diseaseAutosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.Insight into the molecular genetics of myopia.
P2860
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P2860
Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway
description
2007 nî lūn-bûn
@nan
2007 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Lethal congenital contractural ...... linositol-3-kinase/Akt pathway
@ast
Lethal congenital contractural ...... linositol-3-kinase/Akt pathway
@en
Lethal congenital contractural ...... linositol-3-kinase/Akt pathway
@en-gb
Lethal congenital contractural ...... linositol-3-kinase/Akt pathway
@nl
type
label
Lethal congenital contractural ...... linositol-3-kinase/Akt pathway
@ast
Lethal congenital contractural ...... linositol-3-kinase/Akt pathway
@en
Lethal congenital contractural ...... linositol-3-kinase/Akt pathway
@en-gb
Lethal congenital contractural ...... linositol-3-kinase/Akt pathway
@nl
prefLabel
Lethal congenital contractural ...... linositol-3-kinase/Akt pathway
@ast
Lethal congenital contractural ...... linositol-3-kinase/Akt pathway
@en
Lethal congenital contractural ...... linositol-3-kinase/Akt pathway
@en-gb
Lethal congenital contractural ...... linositol-3-kinase/Akt pathway
@nl
P2093
P2860
P921
P356
P1476
Lethal congenital contractural ...... linositol-3-kinase/Akt pathway
@en
P2093
Daniella Landau
Esther Manor
Ginat Narkis
Khalil Elbedour
Rivka Ofir
P2860
P304
P356
10.1086/520770
P407
P50
P577
2007-09-01T00:00:00Z