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Article

Substitution of M398T in the second transmembrane helix of the LH receptor in a patient with familial male-limited precocious puberty.

Endocrine journal - 1 Oct 2000

Ignacak M, Hilczer M, Zarzycki J, Trzeciak W H

Abstract excerpt

Familial male-limited precocious puberty (MPP) is described in a 10 year old patient with typical symptoms of the disease. Sequence analysis of genomic DNA clearly demonstrated a heterozygous T1193C transition in exon 11 of the LH receptor (LHR) gene, which results in M398T substitution in the second transmembrane helix of the protein product of this gene. The same mutation was found in the patient's mother and...

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Identifiers

PMID: 11200941
DOI: 10.1507/endocrj.47.595

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Substitution of M398T in the second transmembrane helix of the LH receptor in a patient with familial male-limited precocious puberty.PMID 11200941Read ↗

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