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Gene conversions, deletions, and polymorphisms in congenital adrenal hyperplasia.

Data up to Jan 2025

Published1988
Citations60
References28

Total Citations Per Year

Abstract

References (28)

The double-strand-break repair model for recombination

1983 • 2,468 citations

Human fetal gγ- and Aγ-globin genes: Complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes

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The P450 Gene Superfamily: Recommended Nomenclature

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

1986 • 559 citations

Gene conversion: Some implications for immunoglobulin genes

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Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man.

1985 • 492 citations

THE MUTATION AND POLYMORPHISM OF THE HUMAN β-GLOBIN GENE AND ITS SURROUNDING DNA

1984 • 404 citations

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

1985 • 390 citations

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

1985 • 371 citations

Gene conversion between duplicated genetic elements in yeast

1981 • 353 citations

THE MOLECULAR GENETICS OF HUMAN HEMOGLOBINS

1980 • 306 citations

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1978 • 270 citations

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1981 • 250 citations

Coordinate tropic hormone regulation of mRNAs for insulin-like growth factor II and the cholesterol side-chain-cleavage enzyme, P450scc [corrected], in human steroidogenic tissues.

1987 • 240 citations

Polymorphism of the human complement C4 and steroid 21-hydroxylase genes. Restriction fragment length polymorphisms revealing structural deletions, homoduplications, and size variants.

1986 • 239 citations

Detection and sequence of mutations in the factor VIII gene of haemophiliacs

1985 • 198 citations

Molecular and clinical advances in congenital adrenal hyperplasia

1987 • 174 citations

Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency.

1988 • 173 citations

Frequent deletion and duplication of the steroid 21-hydroxylase genes.

1986 • 128 citations

Gene Conversion in Salt-Losing Congenital Adrenal Hyperplasia with Absent Complement C4B Protein*

1986 • 127 citations

Congenital Adrenal Hyperplasia

1987 • 119 citations

P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia.

1987 • 102 citations

Intergenic conversion and reiterated genes

1981 • 100 citations

Structure of a bovine gene for P-450c21 (steroid 21-hydroxylase) defines a novel cytochrome P-450 gene family.

1986 • 96 citations

Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia.

1986 • 64 citations

Human fetal globin DNA sequences suggest novel conversion event

1984 • 48 citations

Gene organization of haplotypes expressing two different C4A allotypes

1987 • 31 citations

Frequent Deletion and Duplication of the Steroid 21-Hydroxylase Genes

1987 • 20 citations

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Gene conversions, deletions, and polymorphisms in congenital adrenal hyperplasia. (1988) – PubMed | Metascience Observatory Explorer