Clinical and biochemical characteristics and bone mineral density of homozygous, compound heterozygous and heterozygous carriers of three novel IGFALS mutations
نویسندگان
چکیده
منابع مشابه
Homozygous and compound heterozygous mutations at the Werner syndrome locus.
The Werner syndrome (WS) is a rare autosomal recessive progeroid disorder. The Werner syndrome gene (WRN) has recently been identified as a member of the helicase family. Four distinct mutations were previously reported in three Japanese and one Syrian WS pedigrees. The latter mutation was originally described as a 4 bp deletion spanning a spliced junction. It is now shown that this mutation re...
متن کاملhistological evaluation of the effect of three medicaments; trichloracetic acid, formocresol and mineral trioxide aggregate on pulpotomized teeth of dogs
چکیده ندارد.
15 صفحه اولSkeletal characteristics associated with homozygous and heterozygous WNT1 mutations.
Recent reports have shown that homozygous or compound heterozygous mutations in WNT1 can give rise to severe bone fragility resembling osteogenesis imperfecta, whereas heterozygous WNT1 mutations have been found in adults with dominant early-onset osteoporosis. Here we assessed the effects of WNT1 mutations in four children with recessive severe bone fragility and in heterozygous family members...
متن کاملIdentification and Screening of Homozygous and Heterozygous Almond Progenies from Self-Pollinated Touno Cultivar Using PCR
Self-incompatibility is one of the most important difficulties in almond production which reduce fruit set dramatically and makes orchard management difficult. Therefore, breeding almond to produce self-compatible genotypes is very important. In this research identification and screening of 86 almond progenies obtained from selfing Touno after the self-pollination by PCR reaction with specific ...
متن کاملMolecular and phenotypic effects of heterozygous, homozygous, and compound heterozygote myosin heavy-chain mutations.
Autosomal dominant familial hypertrophic cardiomyopathy (FHC) has variable penetrance and phenotype. Heterozygous mutations in MYH7 encoding beta-myosin heavy chain are the most common causes of FHC, and we proposed that "enhanced" mutant actin-myosin function is the causative molecular abnormality. We have studied individuals from families in which members have two, one, or no mutant MYH7 alle...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: European Journal of Endocrinology
سال: 2017
ISSN: 0804-4643,1479-683X
DOI: 10.1530/eje-16-0999