Keywords: جهش پاتوژن; arteriovenous malformation; pathogenic mutation; sensitivity; specificity; ACVRL1; Activin A receptor like kinase 1; AVM; Arteriovenous malformation; CI; Computerized tomography; ECHO; Echocardiography; ENG; Endoglin; GI; Gastrointestinal; HHT; Hereditary
مقالات ISI جهش پاتوژن (ترجمه نشده)
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Crystal structures of the disease-causing D444V mutant and the relevant wild type human dihydrolipoamide dehydrogenase
Keywords: جهش پاتوژن; h; human; E3; (dihydro)lipoamide dehydrogenase, the common E3 component of the mitochondrial 2-oxo acid dehydrogenase complexes; LADH; (dihydro)lipoamide dehydrogenase; KGDHc; alpha-ketoglutarate (also known as 2-oxoglutarate) dehydrogenase complex; PDHc;
Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina
Keywords: جهش پاتوژن; OAT; ornithine δ-aminotransferase; PLP; pyridoxal 5â²-phosphate; GA; gyrate atrophy; L-Orn; L-ornithine; GSA; glutamic-γ-semialdehyde; α-KG; α-ketoglutarate; P5C; pirroline-5-carboxylate; OATwt; OAT wild-type; OATV332M; OAT bearing the V332M mutation
Human dihydrolipoamide dehydrogenase (E3) deficiency: Novel insights into the structural basis and molecular pathomechanism
Keywords: جهش پاتوژن; E3-deficiency; Dihydrolipoamide dehydrogenase; Alpha-ketoglutarate dehydrogenase complex; Pyruvate dehydrogenase complex; Pathogenic mutation; KGDHc; alpha-ketoglutarate (also known as 2-oxoglutarate) dehydrogenase complex; KG; alpha-ketoglutarate; PDHc;
Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease
Keywords: جهش پاتوژن; Charcot-Marie-Tooth; CMT2K; GDAP1 variants; Pathogenic mutation; Hereditary neuropathy;
Absence of KCNQ4 mutation in Bengali families with ADNSHL originated from West Bengal, India
Keywords: جهش پاتوژن; Hereditary hearing impairment; ADNSHL; KCNQ4; Pathogenic mutation;
Analysis of LDLR variants from homozygous FH patients carrying multiple mutations in the LDLR gene
Keywords: جهش پاتوژن; Familial hypercholesterolemia; LDLR; Double mutant allele; Functional studies; Pathogenic mutation;
Estudio en familiares de pacientes con miocardiopatÃas
Keywords: جهش پاتوژن; Enfermedad hereditaria; Screening clÃnico; Estudio genético; Mutación patógena; Hereditary disease; Clinical screening; Genetic study; Pathogenic mutation;