LAUSR

A Novel Nonsense Mutation c.374C>G in CYP21A2 Gene of a Vietnamese Patient with Congenital Adrenal Hyperplasia.

Sign Up to like & get
recommendations!
1 Published in 2019 at "Advances in experimental medicine and biology"

DOI: 10.1007/5584_2018_300

Abstract: Inactivating mutations of the CYP21A2 gene, encoding for steroid synthesis, have been reported in patients with congenital adrenal hyperplasia (CAH). We report a case of an infant who were diagnosed with CAH and presented with… read more here.

Keywords: novel nonsense; mutation 374c; nonsense mutation; cyp21a2 gene ... See more keywords

Metabolic epilepsy in hyperprolinemia type II due to a novel nonsense ALDH4A1 gene variant

Sign Up to like & get
recommendations!
1 Published in 2021 at "Metabolic Brain Disease"

DOI: 10.1007/s11011-021-00757-w

Abstract: Hyperprolinemia type II (HPII) is a rare autosomal recessive disorder of proline degradation pathway due to deficiency of delta-1-pyrroline-5-carboxylate dehydrogenase. Pathogenic variants in the ALDH4A1 gene are responsible for this disorder. We here describe an… read more here.

Keywords: novel nonsense; gene; aldh4a1 gene; hyperprolinemia type ... See more keywords

A novel nonsense EIF1AX mutation identified in a thyroid nodule histologically diagnosed as oncocytic carcinoma

Sign Up to like & get
recommendations!
0 Published in 2018 at "Endocrine"

DOI: 10.1007/s12020-018-1611-7

Abstract: Thyroid nodules are common in the general population (prevalence 16–68% depending on the screening method and population analyzed) [1]. Over 90% of the nodules detected are benign and will never undergo transformation [2, 3]. Accurate… read more here.

Keywords: novel nonsense; carcinoma; eif1ax mutation; thyroid nodule ... See more keywords

A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling

Sign Up to like & get
recommendations!
1 Published in 2022 at "Journal of Thrombosis and Haemostasis"

DOI: 10.1111/jth.15672

Abstract: Rare inherited thrombocytopenias are caused by alterations in genes involved in megakaryopoiesis, thrombopoiesis and/or platelet release. Diagnosis is challenging due to poor specificity of platelet laboratory assays, large numbers of culprit genes, and difficult assessment… read more here.

Keywords: nonsense variant; caused dominant; tpm4 caused; variant tpm4 ... See more keywords

Erratum to “A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss”

Sign Up to like & get
recommendations!
1 Published in 2017 at "Neural Plasticity"

DOI: 10.1155/2017/9202847

Abstract: [This corrects the article DOI: 10.1155/2016/1512831.]. read more here.

Keywords: novel nonsense; mutation pou4f3; pou4f3 gene; erratum novel ... See more keywords

A Novel Nonsense Mutation in FERMT3 Causes LAD-III in a Pakistani Family

Sign Up to like & get
recommendations!
1 Published in 2019 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2019.00360

Abstract: Leukocyte adhesion deficiency-III (LAD3) is an extremely rare primary immunodeficiency disorder, transmitted with autosomal-recessive inheritance. It is caused by genetic alteration in the FERMT3 gene, which leads to abnormal expression of kindlin-3. This cytoplasmic protein… read more here.

Keywords: novel nonsense; family novel; fermt3; family ... See more keywords