Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations

Medicine & Life Sciences

• Haploinsufficiency 100%
• Insulin-Like Growth Factor I 78%
• Insulin-Like Growth Factor Binding Protein 3 61%
• Acids 58%
• Siblings 44%
• Mutation 43%
• Protein Deficiency 38%
• Genes 31%
• Insulin Resistance 15%
• Heterozygote 10%
• Missense Mutation 10%
• Growth and Development 10%
• Growth 9%
• Point Mutation 9%
• Parents 7%
• Maintenance 6%
• Serum 4%
• Therapeutics 1%

Chemical Compounds

• Mutation 65%
• Insulin Derivative 53%
• Serum Level 35%
• Resistance 32%
• Reduction 11%
• Protein 10%