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glycerophosphoinositol 4,5-bisphosphate and Amyoplasia Congenita

glycerophosphoinositol 4,5-bisphosphate has been researched along with Amyoplasia Congenita in 1 studies

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Birk, OS; Elbedour, K; Hershkowitz, R; Landau, D; Manor, E; Narkis, G; Ofir, R; Volokita, M1

Other Studies

1 other study(ies) available for glycerophosphoinositol 4,5-bisphosphate and Amyoplasia Congenita

ArticleYear
Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.
    American journal of human genetics, 2007, Volume: 81, Issue:3

    Topics: Alleles; Amino Acid Sequence; Amino Acid Substitution; Arthrogryposis; Asparagine; Aspartic Acid; Chromosomes, Human, Pair 19; Female; Homozygote; Humans; Male; Molecular Sequence Data; Mutation; Pedigree; Phosphatidylinositol 4,5-Diphosphate; Phosphotransferases (Alcohol Group Acceptor); Syndrome

2007