1.
HLA
; 103(1): e15236, 2024 Jan.
Article
in English
| MEDLINE
| ID: mdl-37750458
ABSTRACT
The novel HLA-DPA1*01:130 allele differs from HLA-DPA1*01:03:01:03 by one nucleotide substitution in Exon 3.
Subject(s)
HLA-DP alpha-Chains , High-Throughput Nucleotide Sequencing , Humans , Alleles , Histocompatibility Testing , HLA-DP alpha-Chains/genetics
2.
J Eur Acad Dermatol Venereol
; 33(10): e364-e367, 2019 10.
Article
in English
| MEDLINE
| ID: mdl-31066090
3.
HLA
; 90(6): 376-377, 2017 12.
Article
in English
| MEDLINE
| ID: mdl-28873285
ABSTRACT
The new allele, HLA-DQA1*02:01:02 differs from DQA1*02:01:01:01 by C to T substitution in exon 2.
Subject(s)
Alleles , Celiac Disease/genetics , Exons , HLA-DQ alpha-Chains/genetics , Polymorphism, Single Nucleotide , Base Sequence , Celiac Disease/diagnosis , Celiac Disease/immunology , Celiac Disease/pathology , Codon/chemistry , Disease Susceptibility , Gene Expression , HLA-DQ alpha-Chains/immunology , Histocompatibility Testing , Humans , Polymerase Chain Reaction , Sequence Alignment , Sequence Analysis, DNA
4.
HLA
; 90(2): 109-110, 2017 08.
Article
in English
| MEDLINE
| ID: mdl-28382774
ABSTRACT
The novel allele HLA-A*03:275N differs from HLA-A*03:01:01:01 by 1 nucleotide substitutions in exon 2.
Subject(s)
Exons , HLA-A3 Antigen/genetics , Mutation, Missense , Humans
5.
Tissue Antigens
; 85(1): 77-8, 2015 Jan.
Article
in English
| MEDLINE
| ID: mdl-25597904
ABSTRACT
The allele HLA-C*07:02:60 differs from HLA-C*07:02:01:01 by a silent nucleotide substitution in exon 4.
Subject(s)
Alleles , HLA-C Antigens/genetics , Polymorphism, Single Nucleotide , Base Sequence , Codon , Exons , HLA-C Antigens/classification , HLA-C Antigens/immunology , Hematopoietic Stem Cell Transplantation , Histocompatibility Testing , Humans , Molecular Sequence Data , Protein Isoforms/classification , Protein Isoforms/genetics , Protein Isoforms/immunology , Sequence Alignment , Unrelated Donors
6.
Tissue Antigens
; 82(6): 442-3, 2013 Dec.
Article
in English
| MEDLINE
| ID: mdl-24499004
Subject(s)
Exons/genetics , HLA-DP beta-Chains/genetics , Hematopoietic Stem Cell Transplantation , Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics , Base Sequence , Child , Family , Histocompatibility Testing , Humans , Male , Molecular Sequence Data , Polymorphism, Genetic , Precursor Cell Lymphoblastic Leukemia-Lymphoma/therapy , Sequence Alignment , Transplantation , Venezuela
7.
Tissue Antigens
; 79(2): 140-1, 2012 Feb.
Article
in English
| MEDLINE
| ID: mdl-22035606
ABSTRACT
The novel allele HLA-C*16:07:02 differs from HLA-C* 16:07:01 by a silent nucleotide substitution at codon 220 (TAC â TAT).
Subject(s)
HLA-C Antigens/genetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma/therapy , Alleles , Base Sequence , Benin/ethnology , DNA Primers , Exons , Female , HLA-C Antigens/immunology , Haplotypes , Hematopoietic Stem Cell Transplantation , Histocompatibility Testing , Humans , Male , Middle Aged , Molecular Sequence Data , Nucleotides/genetics , Point Mutation , Polymerase Chain Reaction , Precursor Cell Lymphoblastic Leukemia-Lymphoma/immunology , Sequence Analysis, DNA , Siblings
8.
J Med Genet
; 42(2): e9, 2005 Feb.
Article
in English
| MEDLINE
| ID: mdl-15689444
Subject(s)
Cerebellum/abnormalities , Gene Deletion , Kidney Diseases/genetics , Nervous System Diseases/genetics , Proteins/genetics , Retinal Diseases/genetics , Adaptor Proteins, Signal Transducing , Brain Stem/abnormalities , Child, Preschool , Cytoskeletal Proteins , DNA Mutational Analysis , Female , Humans , Kidney Diseases/diagnosis , Magnetic Resonance Imaging , Male , Membrane Proteins , Nervous System Diseases/diagnosis , Retinal Diseases/diagnosis , Syndrome
9.
Minerva Ginecol
; 36(7-8): 395-8, 1984.
Article
in Italian
| MEDLINE
| ID: mdl-6493569
