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dfrA thyA Double Deletion in para-Aminosalicylic Acid-Resistant Mycobacterium tuberculosis Beijing Strains
(American Society for Microbiology, 2016)
Para-Aminosalicylic acid (PAS) is a group 4 antituberculosis agent. It targets folate metabolism as shown in Fig. S1 in the supplemental material, which also summarizes the known mechanisms of resistance to this prodrug. ...
Association of Distal Deletion of the Short arm of Chromosome 9 with 46,XY Disorder of Sex Development and Gonadoblastoma
(Biological Systems, 2015-02)
Deletion of the short arm of chromosome 9 is associated with two distinct clinical prototypes. Small telomeric distal 9p deletions have been reported in patients 46,XY with gonadal dysgenesis, this region contains genes ...
8p23.1 Interstitial Deletion In A Patient With Congenital Cardiopathy, Neurobehavioral Disorders, And Minor Signs Suggesting 22q11.2 Deletion Syndrome
(LIPPINCOTT WILLIAMS & WILKINSPHILADELPHIA, 2015)
The Effects of N Helix Deletion and Mutant F29W on the Ca2+ Binding and Functional Properties of Chicken Skeletal Muscle Troponin C
(1994-05-27)
To assess the structural and functional significance of the N helix (residues 3-13) of avian recombinant troponin C (rTnC), we have constructed NHdel, in which residues 1-11 have been deleted, both in rTnC and in the ...
The Effects of N Helix Deletion and Mutant F29W on the Ca2+ Binding and Functional Properties of Chicken Skeletal Muscle Troponin C
(1994-05-27)
To assess the structural and functional significance of the N helix (residues 3-13) of avian recombinant troponin C (rTnC), we have constructed NHdel, in which residues 1-11 have been deleted, both in rTnC and in the ...
Deletion 5q12: Delineation of a Phenotype Including Mental Retardation and Ocular Defects
(WILEY-BLACKWELL, 2011)
Array-CGH enables the detection of submicroscopic chromosomal deletions and duplications and leads to an accurate delineation of the imbalances, raising the possibility of correlating genotype to phenotype and mapping ...
A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state
(ELSEVIER SCIENCE BVAMSTERDAM, 2012)
Submicroscopic chromosomal anomalies play an important role in the etiology of craniofacial malformations, including midline facial defects with hypertelorism (MFDH). MFDH is a common feature combination in several conditions, ...
Reviewing Large LAMA2 Deletions and Duplications in Congenital MuscularDystrophy Patients
(IOS PressAmsterdam, 2014-09-30)
Background: Congenital muscular dystrophy (CMD) type 1A (MDC1A) is caused by recessive mutations in laminin-α2 (LAMA2) gene. Laminin-211, a heterotrimeric glycoprotein that contains the α2 chain, is crucial for muscle ...