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Article

Study of the family of a patient with male-limited precocious puberty (MPP) due to T1193C transition in exon 11 of LH receptor gene.

Journal of endocrinological investigation - 1 Mar 2002

Ignacak M, Starzyk J, Dziatkowiak H, Trzeciak W H

Abstract excerpt

Molecular diagnostics of the LHR gene was conducted in a 5-year-old boy with clinical symptoms and hormonal profile typical of precocious puberty. His parents and 4 sisters were also diagnosed. Single-strand conformation polymorphism analysis under temperature gradient conditions (Multitemperature SSCP) of 3 overlapping fragments of exon 11 of LHR gene revealed a mutation in the fragment spanning nucleotides 1072...

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Share to Electrophoresis, Polyacrylamide Gel
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single-Stranded Conformational

Share to Protein Structure, Secondary

Share to Puberty, Precocious

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Source

Identifiers

PMID: 11936470
DOI: 10.1007/BF03344001

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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