促黄体生成素受体基因中的一个错义突变（T577I）与家族性男性性早熟相关。 - Suppr

A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.

作者信息

Cocco S, Meloni A, Marini M G, Cao A, Moi P

机构信息

Istituto di Clinica e Biologia dell'Età Evolutiva, Università di Cagliari, Ospedale Regionale per le Microcitemie, Italy.

出版信息

Hum Mutat. 1996;7(2):164-6. doi: 10.1002/(SICI)1098-1004(1996)7:2<164::AID-HUMU13>3.0.CO;2-0.

DOI:10.1002/(SICI)1098-1004(1996)7:2<164::AID-HUMU13>3.0.CO;2-0

PMID:8829636

Abstract

摘要

相似文献

A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.促黄体生成素受体基因中的一个错义突变（T577I）与家族性男性性早熟相关。

Hum Mutat. 1996;7(2):164-6. doi: 10.1002/(SICI)1098-1004(1996)7:2<164::AID-HUMU13>3.0.CO;2-0.

Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.

Hum Mol Genet. 1993 Nov;2(11):1779-83. doi: 10.1093/hmg/2.11.1779.

A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in luteinizing hormone/choriogonadotropin receptor gene as familial cases.一例散发性男性性早熟病例与家族性病例在促黄体生成素/绒毛膜促性腺激素受体基因上具有相同的组成性激活点突变。

J Clin Endocrinol Metab. 1994 Dec;79(6):1818-23. doi: 10.1210/jcem.79.6.7527413.

A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.一种导致男性促性腺激素非依赖性性早熟的促黄体生成素受体基因新突变。

J Clin Endocrinol Metab. 1995 Aug;80(8):2490-4. doi: 10.1210/jcem.80.8.7629248.

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.家族性和散发性男性局限性性早熟中促黄体生成素受体基因的一个新的点突变：基因型并不总是与表型相关。

J Med Genet. 1996 Feb;33(2):143-7. doi: 10.1136/jmg.33.2.143.

Japanese familial patients with male-limited precocious puberty.患有男性性早熟的日本家族性患者。

Endocr J. 2000 Dec;47(6):777-82. doi: 10.1507/endocrj.47.777.

A case of male-limited precocious puberty caused by a point mutation in the second transmembrane domain of the luteinizing hormone choriogonadotropin receptor gene.

Biochem Biophys Res Commun. 1996 Mar 27;220(3):1036-42. doi: 10.1006/bbrc.1996.0528.

A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty.

Nature. 1993 Oct 14;365(6447):652-4. doi: 10.1038/365652a0.

Identification of constitutively activating mutation of the luteinising hormone receptor in a family with male limited gonadotrophin independent precocious puberty (testotoxicosis).在一个患有男性限性腺激素非依赖性性早熟（睾丸中毒症）的家族中鉴定促黄体生成素受体的组成性激活突变。

J Med Genet. 1995 Jul;32(7):553-4. doi: 10.1136/jmg.32.7.553.

Novel C617Y mutation in the 7th transmembrane segment of luteinizing hormone/choriogonadotropin receptor in a Japanese boy with peripheral precocious puberty.日本一名外周性性早熟男孩的黄体生成素/绒毛膜促性腺激素受体第 7 跨膜区的新型 C617Y 突变。

Endocr J. 2010;57(12):1055-60. doi: 10.1507/endocrj.k10e-227. Epub 2010 Nov 2.

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Biomarkers for assessing reproductive development and health: Part 1--Pubertal development.评估生殖发育与健康的生物标志物：第1部分——青春期发育

Environ Health Perspect. 2004 Jan;112(1):105-12. doi: 10.1289/ehp.6265.

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A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.

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