Abstract Background Von Willebrand disease (VWD) is an autosomally inherited bleeding disorder with the prevalence of 1% based on population studies. The disease phenotype is due to quantitative and structural/functional defects in Von Willebrand Factor (VWF) which is a glycoprotein with essential role as a carrier of FVIII in circulation and also it serves the function as hemostasis regulato...

the growth hormone (gh) gene is a candidate for growth trait in farm animals and plays an important role in growth metabolism. growth hormone can contribute in growth metabolism when it's receptor (ghr) are on cells target. the single nucleotide polymorphism was occurred in gh and ghr genes and that associated with carcass traits in lori-bakhtiari sheep breed with using pcr-sscp. in this r...

The growth hormone gene could be an attractive candidate gene for milk production in goats. Single-strand conformation polymorphism was used to identify polymorphism at the goat growth hormone (gGH) gene. For this purpose, genotyping of 90 Talli goat breeds was performed. Nine conformational patterns were observed in exon 4 of the gGH gene, with frequencies of 27.7% for the homozygous pattern (...

the growth hormone gene could be an attractive candidate gene for milk production in goats. single-strand conformation polymorphism was used to identify polymorphism at the goat growth hormone (ggh) gene. for this purpose, genotyping of 90 talli goat breeds was performed. nine conformational patterns were observed in exon 4 of the ggh gene, with frequencies of 27.7% for the homozygous pattern (...

background: ataxia with oculomotor apraxia type 1 (aoa1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (aptx) gene encoding for the aptx protein. methods: in this study, a 7-year-old girl born of a first-cousin consanguineous marriage was described with early-onset progressive ataxia and aoa, with increased cholesterol concentration and decr...

Background: Ataxia with oculomotor apraxia type 1 (AOA1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (APTX) gene encoding for the APTX protein. Methods: In this study, a 7-year-old girl born of a first-cousin consanguineous marriage was described with early-onset progressive ataxia and AOA, with increased cholesterol concentration and decr...

abstract background von willebrand disease (vwd) is an autosomally inherited bleeding disorder with the prevalence of 1% based on population studies. the disease phenotype is due to quantitative and structural/functional defects in von willebrand factor (vwf) which is a glycoprotein with essential role as a carrier of fviii in circulation and also it serves the function as hemostasis regulator....

Previous studies have indicated that in all land plants examined to date, the chloroplast gene trnLUAA isinterrupted by a single group I intron ranging from 250 to over 1400 bp. The parasitic Epifagus virginiana haslost, however, the entire gene. We report that the intron is missing from the chloroplast genome of twoarctic species of the legume genus Hedysarum (H. alpinum, H. ...

spinal muscular atrophy (sma) is a common autosomal recessive neuromuscular disorder caused by the loss of α-motor neurons in the spinal cord. the survival motor neuron (smn) protein is encoded by 2 genes, smn1 and smn2. the most frequent mutation is the biallelic deletion of exon 7 of the smn1 gene. smn2 cannot compensate for the loss of smn1, due to the exclusion of exon 7. carrier frequency ...