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Article

[Exon 5 alternative splicing of the cytochrome P450 aromatase could be a regulatory mechanism for estrogen production in humans].

Medicina - 1 Jan 2007

Pepe Carolina M, Saraco Nora I, Baquedano María Sonia, Guercio Gabriela, Vaiani Elisa, Berensztein Esperanza, Rivarola Marco A, Belgorosky Alicia

Abstract excerpt

P450 aromatase (P450Aro), involved in androgen to estrogen conversion, is encoded by the CYP19 gene. P450Aro c655G>A mutation described in heterozygous form in a girl and in homozygous form in an adult male with P450Aro deficiency results in an aberrant splicing due to disruption of a donor splic...

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Identifiers

PMID: 17891933

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17891933-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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[Exon 5 alternative splicing of the cytochrome P450 aromatase could be a regulatory mechanism for estrogen production in humans].PMID 17891933Read ↗

The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues.Semantic proximity Read ↗

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The Aromatase Cytochrome P-450 and Its Clinical ImpactSemantic proximity Read ↗

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An Intron 9 CYP19 Gene Variant (IVS9+5G>A), Present in an Aromatase-Deficient Girl, Affects Normal Splicing and Is Also Present in Normal Human Steroidogenic Tissues.Semantic proximity Read ↗

Aromatase expression and role of estrogens in male gonad : a reviewSemantic proximity Read ↗

Sources of oestrogen in the testis and reproductive tract of the maleSemantic proximity Read ↗

Variable phenotypes associated with aromatase (CYP19) insufficiency in humans.Semantic proximity Read ↗

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Aromatase Deficiency in a Female Who Is Compound Heterozygote for Two New Point Mutations in the P450arom Gene: Impact of Estrogens on Hypergonadotropic Hypogonadism, Multicystic Ovaries, and Bone Densitometry in Childhood1Semantic proximity Read ↗

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