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the presence of this variant in the homozygous state in P3 and P4 ... enoughto causeLIG1 deficiency
mutation of ABCD4 , an ATP - binding cassette(passive) caused bycblJ deficiency
by a novel homozygous mutation ( Y27Stop ) in the cytochrome CYP17 gene(passive) caused byhydroxylase/17,20-lyase deficiency
changes ( mutations ) in the MYD88 gene(passive) is caused byMYD88 deficiency
mutations in the MYD88 gene(passive) is caused byMYD88 deficiency
by a novel homozygous mutation ( y27stop(passive) caused byhydroxylase/17,20-lyase deficiency
genetic changes ( mutations ) in the CYP21A2 gene(passive) is caused by21-hydroxylase deficiency
by a deficiency in an enzyme called N - glycanase-1 , which is encoded by the gene(passive) to be caused byNGLY1 deficiency
Excess flax intake without supplementary fat sourcescan causeomega-6 deficiency
genecause21-hydroxylase deficiency
mutations(passive) is caused by 21-hydroxylase deficiency
Most mutationscause21-hydroxylase deficiency
genetic changes in the CYP21A2 gene(passive) is caused by21-hydroxylase deficiency
changes ( mutations ) in the AMPD1 gene(passive) is caused byAMPD1 ) deficiency
Mutationscausepseudocholinesterase deficiency
a shortage ( deficiency ) of the 21-hydroxylase enzyme(passive) is caused by21-hydroxylase deficiency
by mutations in the MYD88 gene , which provides instructions for making a protein that plays an important role in stimulating the immune system to respond to bacterial infection(passive) is caused byMyD88 deficiency
mutations in the MYD88 gene , which provides instructions for making a protein that plays an important role in stimulating the immune system to respond to bacterial infection(passive) is caused byMyD88 deficiency
mutations in the TRNT1 gene , which provides instructions for making a protein involved in the production ( synthesis ) of other proteins(passive) is caused byTRNT1 deficiency
At least 12 mutations in the TPI1 gene have been foundto causetriosephosphate isomerase deficiency
a reduction of the HK activitycauseshexokinase deficiency
a defect in the AHCY gene , which codes for SAH(passive) is usually caused byHydrolase Deficiency
The presence of this pseudogene is clinically significant in humanscauses21-hydroxylase deficiency
various mutations in the gene encoding the key glycolytic enzyme TPI(passive) is caused byTriosephosphate isomerase deficiency
the ancestral haplotypecausingAMPD1 deficiency
salt - sensitive hypertension in micecausessalt - sensitive hypertension in mice
in a drastic reduction of these myeloid cells in bloodresultedin a drastic reduction of these myeloid cells in blood
Permanent neonatal diabetes(passive) caused byPermanent neonatal diabetes
in a complete lack ofresultsin a complete lack of
to thrombosismay leadto thrombosis
to fibrin accumulation and a compromised inflammatory response in the mouse brainleadsto fibrin accumulation and a compromised inflammatory response in the mouse brain
mild symptomscan causemild symptoms
cataracts and pseudotumor cerebrimay causecataracts and pseudotumor cerebri
to mitochondrial dysfunctionleadsto mitochondrial dysfunction
in increased atherosclerosisresultedin increased atherosclerosis
Metabolic changes in skin(passive) caused byMetabolic changes in skin
mild symptoms , such as hair thinning , brittle fingernails , or skin rashcan causemild symptoms , such as hair thinning , brittle fingernails , or skin rash
higher rates of spontaneous mutationcausedhigher rates of spontaneous mutation
the enhanced depression - like phenotypecausedthe enhanced depression - like phenotype
multiple behavioral abnormalities in mice ... namely ... hyperactivity , enhanced depression - like behavior , and anxiety - related abnormalitiescausedmultiple behavioral abnormalities in mice ... namely ... hyperactivity , enhanced depression - like behavior , and anxiety - related abnormalities
mild symptoms , such as hair thinning or skin rash typically on the facecan causemild symptoms , such as hair thinning or skin rash typically on the face
susceptibilitymay causesusceptibility
to a shortage ( deficiency ) of functional TRNT1 proteinleadto a shortage ( deficiency ) of functional TRNT1 protein
mild symptoms , such as hair thinning , brittle fingernails , or skin rash , typically on the facecan causemild symptoms , such as hair thinning , brittle fingernails , or skin rash , typically on the face
to secondary elevations in skin - derived circulating factor(sleadsto secondary elevations in skin - derived circulating factor(s
several behavioral abnormalities in mice ... particularly in the emotional aspectscausedseveral behavioral abnormalities in mice ... particularly in the emotional aspects
to iron accumulation in hepatocytes and subsequent oxidative stress and inflammation , which in turn promoted the compensatory proliferation of hepatocytes and the development of tumorsledto iron accumulation in hepatocytes and subsequent oxidative stress and inflammation , which in turn promoted the compensatory proliferation of hepatocytes and the development of tumors
alterations in amino acid profile and in phospholipid and adenosine metabolism in the postnatal mouse hippocampuscausesalterations in amino acid profile and in phospholipid and adenosine metabolism in the postnatal mouse hippocampus
defects in otic fibrocytes and stria vasculariscausesdefects in otic fibrocytes and stria vascularis
consulted prior to taking it of psychosismay also leadconsulted prior to taking it of psychosis
to Irp2 overexpression , iron overload , and oxidative stressleadsto Irp2 overexpression , iron overload , and oxidative stress
a faulty function in a subset of white blood cells called monocytes / macrophagescausesa faulty function in a subset of white blood cells called monocytes / macrophages
behavioral alternations ( summarized in Table 1causesbehavioral alternations ( summarized in Table 1
defects in both otic fibrocytes and stria vascularis at different developmental stages and by different pathological mechanisms , which may account for the progressive nature of DFN3 hearing losscausesdefects in both otic fibrocytes and stria vascularis at different developmental stages and by different pathological mechanisms , which may account for the progressive nature of DFN3 hearing loss