Amanote Research
Register
Sign In
Clinical and Genetic Analysis of ZTTK Syndrome Caused by SON Heterozygous Mutation C.394C>T
Molecular genetics & genomic medicine
- United States
doi 10.1002/mgg3.953
Full Text
Open PDF
Abstract
Available in
full text
Categories
Genetics
Molecular Biology
Date
September 26, 2019
Authors
Yu Yang
Lei Xu
Zhen Yu
Hui Huang
Li Yang
Publisher
Wiley
Related search
Recurrent Inflammatory Disease Caused by a Heterozygous Mutation in CD48
Journal of Allergy and Clinical Immunology
Allergy
Immunology
Heterozygous Mutation of C.3521C>T in COL1A1 May Cause Mild Osteogenesis Imperfecta/Ehlers-Danlos Syndrome in a Chinese Family
Intractable and Rare Diseases Research
Medicine
Heterozygous Versus Homozygous Phenotype Caused by the Same Mc4r Mutation: Novel Mutation Affecting a Large Consanguineous Kindred
BMC Medical Genetics
Genetics
Novel KRIT1/CCM1 Heterozygous Nonsense Mutation (C.715 C>T) Associated With Cerebral and Cerebellar Cavernous Malformations in a Paediatric Patient
BMJ Case Reports
Medicine
Dysfibrinogenaemia Associated With a Novel Heterozygous Mutation in FGB (C.680delG) and a Mild Clinical History of Bleeding
Blood Coagulation and Fibrinolysis
Medicine
Hematology
Clinical, Genetic, and Pathologic Characterization of FKRP Mexican Founder Mutation C.1387A>G
Neurology: Genetics
Neurology
Genetics
A C-Terminal Amino Acid Substitution in the Γ-Chain Caused by a Novel Heterozygous Frameshift Mutation (Fibrinogen Matsumoto VII) Results in Hypofibrinogenaemia
Thrombosis and Haemostasis
Hematology
Clinical and Genetic Characteristics of New Allele Variants of the Mowat–Wilson Syndrome Caused by ZEB2 Gene Mutations
Nervno-Myshechnye Bolezni
Neurology
Gillespiе Syndrome, Caused by Previously Undescribed Mutation in the Gene ITPR1
Russkii Zhunal Detskoi Nevrologii
Child Health
Neurology
Pediatrics
Perinatology
