Steroid 21‐hydroxylase gene polymorphism in Addison's disease patients

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1989 • 3,557 citations

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

1989 • 3,458 citations

HLA-DQβ gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus

1987 • 2,045 citations

Structure of human steroid 21-hydroxylase genes.

1986 • 568 citations

Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene.

1986 • 559 citations

Two Types of Autoimmune Addisonʼs Disease Associated with Different Polyglandular Autoimmune (PGA) Syndromes

1981 • 532 citations

21-hydroxylase, a major autoantigen in idiopathic Addison's disease

1992 • 403 citations

Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.

1985 • 371 citations

Bidirectional solid-phase sequencing of in vitro-amplified plasmid DNA.

1991 • 264 citations

Description of the Reference Panel of B-Lymphoblastoid Cell Lines for Factors of the HLA System: The B-Cell Line Panel Designed for the Tenth International Histocompatibility Workshop

1989 • 187 citations

Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia.

1987 • 184 citations

Clinical and Molecular Genetics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

1991 • 163 citations

Inherited Susceptibility to Autoimmune Addison's Disease Is Linked to Juman Leukocyte Antigens-DR3 and/or DR4, except when Associated with Type I Autoimmune Poluglandular Syndrome*

1986 • 155 citations

A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.

1990 • 152 citations

Steroid 21‐hydroxylase is a major autoantigen involved in adult onset autoimmune Addison's disease

1992 • 111 citations

HLA associations with autoimmune Addison's disease

1991 • 61 citations

Major histocompatibility complex class II and III in Addison's disease MHC alleles do not predict autoantibody specificity and 21-hydroxylase gene polymorphism has no independent role in disease susceptibility

1994 • 52 citations

Naturally occurring mutations in human steroid 21-hydroxylase influence adrenal autoantibody binding.

1994 • 33 citations

Naturally occurring mutations in human steroid 21-hydroxylase influence adrenal autoantibody binding

1994 • 11 citations