Anil K. Agarwal
- A Novel Homozygous Ala529ValLMNAMutation in Turkish Patients with Mandibuloacral Dysplasia
2005/09/01 by Abhimanyu Garg, Özgür Çoğulu, Ferda Özkınay +2 · 4 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Biology #Compound heterozygosity #Gene #Genetics #Internal medicine #LMNA #Lipodystrophy #Medicine #Missense mutation #Mutation #Nuclear Structure and Function #RNA Research and Splicing #Skin and Cellular Biology Research
- Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome
2018/11/07 by Jennifer A. Wambach, Jennifer Wambach, Daniel Wegner +17 · 25 citations
Biochemistry, Genetics and Molecular Biology · #Allele #Biology #Gene #Genetics #RNA #RNA Research and Splicing #RNA modifications and cancer #RNA polymerase #RNA polymerase III #RNA regulation and disease
- Severe Mandibuloacral Dysplasia-Associated Lipodystrophy and Progeria in a Young Girl with a Novel Homozygous Arg527Cys LMNA Mutation
2008/09/17 by Anil K. Agarwal, Irina Kazachkova, Svetlana Ten +1 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Nuclear Structure and Function #Skin and Cellular Biology Research #Cellular transport and secretion #LMNA #Progeria #Lamin #Lipodystrophy #Biology #Missense mutation #Short stature #Hypoplasia #Endocrinology #Internal medicine #Genetics #Pathology #Mutation #Medicine #Anatomy #Gene