Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 se...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Substitution
Share to Child
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pedigree

Share to Protein Structure, Secondary

Share to Puberty, Precocious

Share to Receptors, LH

Source

Identifiers

PMID: 11200941
DOI: 10.1507/endocrj.47.595

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11200941-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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

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

A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty.Semantic proximity Read ↗

A Unique Constitutively Activating Mutation in Third Transmembrane Helix of Luteinizing Hormone Receptor Causes Sporadic Male Gonadotropin-Independent Precocious Puberty<sup>1</sup>Semantic proximity Read ↗

Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix.Semantic proximity Read ↗

LH receptor defects.Semantic proximity Read ↗

A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty.Semantic proximity Read ↗

A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty.Semantic proximity Read ↗

[A report of familial male-limited precocious puberty caused by a germ-line heterozygous mutation (M398T) in luteinizing hormone receptor gene].Semantic proximity Read ↗

A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.Semantic proximity Read ↗

A novel luteinizing hormone receptor mutation in a patient with familial male-limited precocious puberty: effect of the size of a critical amino acid on receptor activity.Semantic proximity Read ↗

[Familial male-limited precocious puberty due to Asp578His mutations in the LHCGR gene: clinical characteristics and gene analysis in an infant].Semantic proximity Read ↗

Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.