{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T03:38:52Z","timestamp":1767843532526,"version":"3.49.0"},"reference-count":21,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,2]]},"abstract":"<jats:p>Genomic DNA from two families with male limited precocious puberty was examined for mutations of the LH receptor gene. In family 1, several members of the pedigree have FMPP, whereas in family 2 there is only one affected subject. A point mutation (T --&gt; C at nucleotide 1192) resulting in substitution of threonine for methionine 398 in the second transmembrane domain of the LH receptor protein was found in both families. In addition, one member of family 1 has the mutation, but no evidence of precocious puberty. All obligate carriers within this family were shown to have the mutation, and it was not detected in 94 chromosomes from unaffected and unrelated white subjects. In family 2, the index case was the only one to have the mutation. A previously unreported neutral dimorphism (C --&gt; T at nucleotide 1065) is also described.<\/jats:p>","DOI":"10.1136\/jmg.33.2.143","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"143-147","source":"Crossref","is-referenced-by-count":45,"title":["A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype."],"prefix":"10.1136","volume":"33","author":[{"given":"B A","family":"Evans","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D J","family":"Bowen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P J","family":"Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P E","family":"Clayton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J W","family":"Gregory","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1996,2,1]]},"reference":[{"key":"ref_1","first-page":"571","article-title":"Gonadotropinindependent familial sexual precocity with premature leydig and germinal cell maturation (familial testotoxicosis): effects of a potent luteinizing hormone releasing factor agonist and medroxyprogesterone acetate therapy in four cases..7 Clin Endocrinol Metab 1983; 57","author":"Rosenthal, S.M.; Grumbach, M.M.; Kaplan, S.L.","unstructured":"Rosenthal SM, Grumbach MM, Kaplan SL. 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