Tyrosinemia is an autosomal recessive disorder. The complete molecular mechanism of these diseases has still not been done.This study has been done in order to get more insight into the molecular mechanism of the genesFAH, HPD, and TAT responsible for Tyrosinemia. The genes and CDNA sequences for the disease have been identified and then the structural and functional analysis of the genes has been conducted. The molecular weights, melting point, GC content in the sequences have been studied using various bioinformatics tools. The open reading frames of the genes responsible were studied to study the start and stop codons so as to analyse the variations in the genes and their variants. The fourier analysis of the genes has also been conducte...
Hereditary tyrosinemia type 1 (HT1) is a rare metabolic disease caused by a deficient activity of th...
ABSTRACT: Congenital tyrosine hydroxylase deficiency (THD) is found in autosomal-recessive Dopa-resp...
Our improved understanding of cellular biology, and, in a larger sense, human variability, relies on...
Tyrosinemia is an autosomal recessive disorder. The complete molecular mechanism of these diseases h...
Tyrosinase gene (TYR) encodes a protein that regulates the production of the pigment melanin, a prim...
The protein tyrosine phosphatases (PTPs) are now recognized as critical regulators of signal transdu...
Thesis (Ph.D. (Biochemistry))--North-West University, Potchefstroom Campus, 2012Hereditary tyrosinem...
Misfolding and structural alteration in proteins lead to serious malfunctions and cause various dise...
The aim of the research was to identify the genes responsible for Phenylketonuria and Tyrosinemia. B...
With the discovery that sickle cell anaemia is the result of a structurally altered haemoglobin prot...
Rare diseases represent a clinically and genetically heterogeneous group of diseases affecting vario...
This thesis describes a molecular genetic study of four dominantly inherited movement disorders: par...
Abstract Background Hereditary tyrosinemia type 1 (HT1; OMIM# 276700) is a genetic metabolism disord...
<p>The novel mutations are marked by an asterisk. A: Exon structure of the <i>TYR</i> gene showing t...
The study of rare genetic diseases presents unique opportunity to uncover the genetic and molecular ...
Hereditary tyrosinemia type 1 (HT1) is a rare metabolic disease caused by a deficient activity of th...
ABSTRACT: Congenital tyrosine hydroxylase deficiency (THD) is found in autosomal-recessive Dopa-resp...
Our improved understanding of cellular biology, and, in a larger sense, human variability, relies on...
Tyrosinemia is an autosomal recessive disorder. The complete molecular mechanism of these diseases h...
Tyrosinase gene (TYR) encodes a protein that regulates the production of the pigment melanin, a prim...
The protein tyrosine phosphatases (PTPs) are now recognized as critical regulators of signal transdu...
Thesis (Ph.D. (Biochemistry))--North-West University, Potchefstroom Campus, 2012Hereditary tyrosinem...
Misfolding and structural alteration in proteins lead to serious malfunctions and cause various dise...
The aim of the research was to identify the genes responsible for Phenylketonuria and Tyrosinemia. B...
With the discovery that sickle cell anaemia is the result of a structurally altered haemoglobin prot...
Rare diseases represent a clinically and genetically heterogeneous group of diseases affecting vario...
This thesis describes a molecular genetic study of four dominantly inherited movement disorders: par...
Abstract Background Hereditary tyrosinemia type 1 (HT1; OMIM# 276700) is a genetic metabolism disord...
<p>The novel mutations are marked by an asterisk. A: Exon structure of the <i>TYR</i> gene showing t...
The study of rare genetic diseases presents unique opportunity to uncover the genetic and molecular ...
Hereditary tyrosinemia type 1 (HT1) is a rare metabolic disease caused by a deficient activity of th...
ABSTRACT: Congenital tyrosine hydroxylase deficiency (THD) is found in autosomal-recessive Dopa-resp...
Our improved understanding of cellular biology, and, in a larger sense, human variability, relies on...