Novel PMM2 missense mutation in a Chinese family with non-syndromic premature ovarian insufficiency
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چکیده
منابع مشابه
A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...
متن کاملP-125: Identification of Novel Missense Mutations of The TGFBR3 Gene in Chinese Women with Premature Ovarian Failure
Background The aim of this study was to assess the ssociation between human transforming growth factor b receptor,type III (TGFBR3) and idiopathic premature ovarian failure (POF) in a Chinese population. MaterialsAndMethods A total of 112 Chinese women with idiopathic POF and 110 normal controls were examined. DNA samples prepared from blood leukocytes were used as templates for polymerase-chai...
متن کاملNovel KIT Missense Mutation P665S in a Chinese Piebaldism Family
Vol. 29, No. 6, 2017 801 Received July 27, 2016, Revised October 10, 2016, Accepted for publication October 31, 2016 Corresponding author: Yanhua Liang, Department of Dermatology, Shenzhen Hospital of Southern Medical University, 1333 Xinhu Road, Shenzhen, Guangdong 518100, China. Tel: 86-755-23360448, Fax: 86-755-23360448, E-mail: [email protected] This is an Open Access article distributed ...
متن کاملa novel missense mutation in clcn1 gene in a family with autosomal recessive congenital myotonia
congenital recessive myotonia is a rare genetic disorder caused by mutations in clcn1, which codes for the main skeletal muscle chloride channel clc-1. more than 120 mutations have been found in this gene. the main feature of this disorder is muscle membrane hyperexcitability. here, we report a 59-year male patient suffering from congenital myotonia. he had transient generalized myotonia, which...
متن کاملThe Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review
Purpose: Several causes for primary ovarian insufficiency have been described, including iatrogenic and environmental factor, viral infections, chronic disease as well as genetic alterations. Given the large number of genes described in the literature so far, the aim of this review was to collect all the genetic mutations associated with non-syndromic primary ovarian insufficiency. Methods: All...
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ژورنال
عنوان ژورنال: Journal of Assisted Reproduction and Genetics
سال: 2020
ISSN: 1058-0468,1573-7330
DOI: 10.1007/s10815-019-01675-8