LAUSR

Neuroacanthocytosis: A new mutation.

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0 Published in 2017 at "Neurologia"

DOI: 10.1016/j.nrl.2015.06.007

Abstract: La neuroacantocitosis es una entidad que engloba diferentes enfermedades neurodegenerativas en las que, además de la sintomatología neurológica, se observan eritrocitos anormalmente espiculados. Dentro de este grupo se encuentra la coreoacantocitosis, una enfermedad autosómica recesiva… read more here.

Keywords: del; los; new mutation; que ... See more keywords

Hb Amsterdam-A1 [α32(B13)Met→Ile; HBA1: c.99G>A]: A Hyperunstable Variant Due to a New Mutation on the α1 Gene

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0 Published in 2017 at "Hemoglobin"

DOI: 10.1080/03630269.2017.1311911

Abstract: Abstract Patients with hyperunstable α chain variants usually present with a thalassemic, rather than hemolytic, phenotype. Electrophoretic, ion exchange and reverse phase separations usually fail to detect the variant and when DNA sequencing identifies a… read more here.

Keywords: ile hba1; mutation gene; b13 met; new mutation ... See more keywords

A new mutation in the PDE6C gene in achromatopsia.

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1 Published in 2022 at "European journal of ophthalmology"

DOI: 10.1177/11206721221093023

Abstract: PURPOSE To report a case of achromatopsia with a new mutation in the PDE6C gene which has not been previously described. METHODS Case report. PATIENTS A single patient. RESULTS A 35-year-old woman with poor vision… read more here.

Keywords: pde6c gene; new mutation; mutation pde6c; pde6c ... See more keywords

Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract

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1 Published in 2022 at "Frontiers in Cell and Developmental Biology"

DOI: 10.3389/fcell.2022.794837

Abstract: Congenital hereditary cataract is genetically heterogeneous and the leading cause of visual impairment in children. Identification of hereditary causes is critical to genetic counselling and family planning. Here, we examined a four-generation Chinese pedigree with… read more here.

Keywords: congenital cataract; cataract; identification; mutation ... See more keywords

A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report

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1 Published in 2019 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2019.01383

Abstract: Rationale Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). The clinical manifestations of this disease are severe skeletal deformities, airway obstruction, cardiomyopathy, and neurologic… read more here.

Keywords: ids gene; genetics; hunter syndrome; new mutation ... See more keywords