ACTH INSENSITIVITY syndromes comprise an uncommon group of disorders that, current
evidence suggests, have at least three different molecular etiologies. The aim of this review …

Genetic research in allergic disease has focused primarily on asthma and its associated
phenotypes (eg, total IgE), with very little attention given to the presence or absence of …

The activation-induced cytidine deaminase (AID) gene, specifically expressed in germinal
center B cells in mice, is a member of the cytidine deaminase family. We herein report …

Hereditary haemorrhagic telangiectasia, or Osler–Rendu–Weber (ORW) syndrome, is an
autosomal dominant vascular dysplasia. So far, two loci have been demonstrated for ORW …

The gene for spinocerebellar ataxia type 2 (SCA2) has been mapped to 12q24. 1. A1. 1–
megabase contig in the candidate region was assembled in P1 artificial chromosome and …

Two forms of the neurodegenerative disorder spinocerebellar ataxia are known to be
caused by the expansion of a CAG (polyglutamine) trinucleotide repeat. By screening cDNA …

Abstract Alpha-2-macroglobulin (α-2 M; encoded by the gene A2M) is a serum pan-protease
inhibitor that has been implicated in Alzheimer disease (AD) based on its ability to mediate …

The triple A syndrome (MIM 231550) is a rare autosomal recessive disorder characterized
by adrenal insufficiency, achalasia and alacrima. The frequent association with a variety of …

A physical map has been constructed of the human genome containing 15,086 sequence-
tagged sites (STSs), with an average spacing of 199 kilobases. The project involved …

Sixty-five patients suffering from autosomal dominant cerebellar ataxia-1 (ADCA-1) were
subjected to a genotype phenotype correlation analysis using molecular genetic assignment …