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Análisis mutacional del gen Homeobox de segmento muscular 1 (MSX1) en chilenos con fisuras orales
(Sociedad Médica de Santiago, 2004)
Novel mutations in the IRF6 gene in Brazilian families with Van der Woude syndrome
(Professor D A SpandidosAthensGrécia, 2008)
Revisiting the clinical impact of variants in EFHC1 in patients with different phenotypes of genetic generalized epilepsy
(Elsevier B.V., 2020-11-01)
The most common form of genetic generalized epilepsy (GGE) is juvenile myodonic epilepsy (JME), which accounts for 5 to 10% of all epilepsy cases. The gene EFHC1 has been implicated as a putative cause of JME. However, it ...
Hallazgo de una nueva mutación en una familia chilena con diabetes monogénica. Caso clínico
(Sociedad Medica de Santiago, 2018)
We report a 21 years old woman, without offspring, with diabetes mellitus
diagnosed at 17 years of age, without ketosis or weight loss. Her body mass index
was 18 kg/m2. Her C peptide was normal (2.3 ng/ml) and diabetes ...
Identification and understanding of Kinase Activating Missense Mutations
(Universidade Federal de Minas GeraisUFMG, 2017-07-25)
Protein phosphorylation and dephosphorylation play vital roles in a variety of cellular processes, and the balance between them must be closely regulated. Disturbances in the harmonic relationship between protein phosphorylation ...
Kinetic characterization of hypophosphatasia mutations with physiological substrates
(Amer Soc Bone & Mineral Res, 2002-08-01)
We have analyzed 16 missense mutations of the tissue-nonspecific AP (TNAP) gene found in patients with hypophosphatasia. These mutations span the phenotypic spectrum of the disease, from the lethal perinatal/infantile forms ...
Kinetic characterization of hypophosphatasia mutations with physiological substrates
(Amer Soc Bone & Mineral Res, 2002-08-01)
We have analyzed 16 missense mutations of the tissue-nonspecific AP (TNAP) gene found in patients with hypophosphatasia. These mutations span the phenotypic spectrum of the disease, from the lethal perinatal/infantile forms ...