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Several authors have reported an association between mutations of the cystic fibrosis transmembrane conductance regulator gene (CFTR) and chronic pancreatitis. CFTR gene transcription and protein efficiency are influenced by two polymorphic loci, (TG)m and M470V, other than the T5 allele, whose...
A mosaic marker chromosome found in amniotic fluid was shown to have originated from the proximal part of the long arm of chromosome 22. This marker is unusual because it is the result of a deletion of a maternally inherited Robertsonian 21;22 translocation. It is suggested that the deletion and...
Renal malformations are the major cause of renal failure during early childhood. They are found in approximately 100 genetic syndromes. We review the embryologic development of the kidney and its molecular control. Important new information has been derived from mutational analysis in humans and...
A common assumption underlying most genetic studies is that individuals with different genotypes respond similarly to exposure to internal (epigenetic and background genotype effects) and external (ecological) environments. Here we evaluate whether this assumption is true in individuals with...
Parkinson's disease (PD) is characterized by major alterations of neurotransmitter activity due to damage of the substantia nigra. Changes in neuropeptide concentration within the basal ganglia may play an important role in the putative dopaminergic–peptidergic interactions associated with the...
Congenital cataract is a major cause of blindness in children, and there is wide variation in the few reports available on the frequencies of its different inheritance patterns. Two hundred and fifty-two families with congenital cataract belonging to 13 different states of India, were clinically...
In the present study, we have characterized a unique splice donor G to A substitution in the moderately conserved +5 position in intron 10 of the low-density lipoprotein (LDL) receptor gene. In two Danish families, carriers of the 1592+5G→A mutation display a clinical phenotype ranging from...
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