Receptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorean E180splice mutation in an oriental Jewish patient-Reference-Cited by-同舟云学术

Receptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorean E180splice mutation in an oriental Jewish patient

Published:1994-04 Issue:s399 Volume:83 Page:112-114
ISSN:0803-5253
Container-title:Acta Paediatrica
language:en
Short-container-title:Acta Paediatrica

Author:

Berg MA,Peoples R,Pérez-Jurado L,Guevara-Aguirre J,Rosenbloom AL,Laron Z,Milner RDG,Francke U

Publisher

Wiley

Subject

General Medicine,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1651-2227.1994.tb13302.x/fullpdf

Reference11 articles.

1. Genetic heterogeneity in Laron syndrome

2. Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome

3. Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome

Cited by 49 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The Genetic Diversity of the Americas;Annual Review of Genomics and Human Genetics;2017-08-31

2. Growth Hormone and Insulin-Like Growth Factor-I: Effects on the Brain;Hormones, Brain and Behavior;2017

3. A half-century of studies of growth hormone insensitivity/Laron syndrome: A historical perspective;Growth Hormone & IGF Research;2016-06

4. Lessons from 50 Years of Study of Laron Syndrome;Endocrine Practice;2015-12

5. The E180splice mutation in theGHRgene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?;American Journal of Medical Genetics Part A;2014-03-24