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Article
The conundrum of HLA-DRB1*14:01/*14:54 and HLA-DRB3*02:01/*02:02 mismatches in unrelated hematopoietic SCT
Uncertainty still exists on the role of polymorphisms outside the HLA-DRB1 binding site or inside the HLA-DRB3 binding groove in unrelated hematopoietic SCT (HSCT). The ideal model to solve the conundrum consi...
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Article
The role of killer immunoglobulin-like receptor haplotypes on the outcome of unrelated donor haematopoietic SCT for thalassaemia
Recent insight into the pathophysiology of acute GVHD after allogeneic haematopoietic SCT has led to a growing interest in the role of natural killer (NK) cells. NK cell cytotoxicity is mainly regulated by the...
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Article
Open AccessDistribution of killer cell immunoglobulin-like receptors genes in the Italian Caucasian population
Killer cell immunoglobulin-like receptors (KIRs) are a family of inhibitory and activatory receptors that are expressed by most natural killer (NK) cells. The KIR gene family is polymorphic: genomic diversity ...
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Article
Association of HLA-DRB3*0202 and serum IgG antibodies to Chlamydia pneumoniae with essential hypertension in a highly homogeneous population from Majorca (Balearic Islands, Spain)
Separate studies investigating the relationship of essential hypertension (EH) with the HLA system and with Chlamydia pneumoniae (C. pneumoniae) infection have given conflicting results. Our aim was to clarify th...
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Article
SOD1 mutations in amyotrophic lateral sclerosis
Amyotrophic Lateral Sclerosis (ALS), the most common form among motoneuron diseases, is characterized by a progressive neurodegenerative process involving motor neurons in the motor cortex, brain stem and spin...
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Article
A novel germline mutation of MEN 1 gene in a patient with acromegaly and multiple endocrine tumors
Germline mutations of the MEN 1 gene are responsible for multiple endocrine neoplasia type 1 (MEN 1), a dominantly inherited cancer syndrome characterized by tumors of the parathyroids, gastro-intestinal endoc...
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Article
Genetic structure of the Sardinian population at the D1S80 VNTR locus and population diversity
We typed the Sardinian population at the D1S80 VNTR locus. Nineteen alleles were detected in a sample of 92 unrelated individuals, allele frequency distribution showing a modal pattern mostly in agreement with...
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Article
A missense mutation in the glucagon receptor gene is associated with non–insulin–dependent diabetes mellitus
Non–insulin–dependent diabetes mellitus (NIDDM) affects about 5% of the world population. The disease presents a polygenic mode of inheritance, but mechanisms and genes involved in late–onset NIDDM are largely...
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Chapter and Conference Paper
RFLP Standardization Report for BF/PstI
The BF/PstI system identified five nonpolymorphic fragments, as shown in Table 1 and Figure 1.
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Chapter and Conference Paper
RFLP Standardization Report for DR Alpha/PstI
The DR alpha/Pst1 system identified a single nonpolymorphic fragment of 5.90 kb as shown in Figure 1.
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Chapter and Conference Paper
RFLP Standardization Report for C2/PstI
The C2/PstI system defines the two polymorphic fragments (Table 1 and Fig. 1). The largest fragment of 12.31 kb was much more frequent among the 72 core cell lines that the other fragment of 11.65 kb. The band...
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Chapter and Conference Paper
RFLP Standardization Report for DQ Alpha/PstI
The DQ alpha/PstI system identified seven fragments as shown in Table 1. Standard fragment nos. 5 and 6 are very close, so the distinction between these two fragments might be difficult (Fig. 1). Table 2 indic...
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Chapter and Conference Paper
RFLP Standardization Report for C4/PstI
The C4/PstI system identified a single nonpolymorphic fragment of 2.34 kb (Fig. 1).
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Chapter and Conference Paper
RFLP Standardization Report for 210H/PstI
The 210H/PstI system identified the four polymorphic and two nonpolymorphic fragments indicated in Table 1. St. fragment no. 4 was found in only one of the 72 cell-lines and it should be noted that the correct...
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Chapter and Conference Paper
RFLP Standardization Report for Class I/PstI
The class I/PstI system identified a total of 30 fragments (Table 1 and Fig. 1). Five of these (St. fragment 7,15, 17,29, and 30) have been excluded from the analysis because they were very weak fragments seen...
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Chapter and Conference Paper
RFLP Standardization Report for DP Alpha/PstI
The DP alpha/PstI system identified two polymorphic and four nonpolymorphic fragments (Table 1 and Fig. 1). The two polymorphic fragments divide the DP alleles in two groups. Standard fragment no. 2 correlates...
