Novel mutations in the PLCZ1 gene associated with human low or failed fertilization
نویسندگان
چکیده
منابع مشابه
Novel mutations in the folliculin gene associated with spontaneous pneumothorax.
Spontaneous pneumothorax is mostly sporadic but may also occur in families with genetic disorders, such as Birt-Hogg-Dubé syndrome, which is caused by mutations in the folliculin (FLCN) gene. The aim of the present study was to investigate the presence and type of mutation in a Swiss pedigree and in a sporadic case. Clinical examination, lung function tests and high-resolution computed tomograp...
متن کاملmutations in the pten/mmac1 gene associated with
abstract objective: in this study, we evaluated pten mutations in cowden disease and juvenile polyposis syndrome. pten mutations were detected, cancer and other phenotypes associated with each of these mutations were characterized and loss of wild type pten allele in the associated tumors was demonstrated. methods: out of 9 patients included in this study, 8 had juvenile polyposis and 1 had c...
متن کاملa novel missense mutation, e1623g, in the human factor viii gene associated with moderate haemophilia a
introduction: haemophilia a is the most common inherited x-linked recessive bleeding disorder. the severity of the resultant bleeding diathesis depends on the fviii levels associated with the mutation. analysis of carrier state can be made indirectly by dna linkage analysis or directly by identifying the mutation that leads to the disease. the aim of this study was to identification of the caus...
متن کاملNovel Missense Mitochondrial ND4L Gene Mutations in Friedreich's Ataxia
Objective(s) The mitochondrial defects in Friedreich's ataxia have been reported in many researches. Mitochondrial DNA is one of the candidates for defects in mitochondrion, and complex I is the first and one of the largest catalytic complexes of oxidative phosphorylation (OXPHOS) system. Materials and Methods We searched the mitochondrial ND4L gene for mutations by TTGE and sequencing on 30...
متن کاملNovel Mutations in TACSTD2 Gene in Families with Gelatinous Drop-like Corneal Dystrophy (GDLD)
In the current study, we conducted a mutation screening of tumor-associated calcium signal transducer 2 (TACSTD2) gene in six consanguineous Iranian families with gelatinous drop-like corneal dystrophy (GDLD), in order to find the causative mutations. Detailed eye examination was performed by ophthalmologist to confirm GDLD in patients. To detect the possible mutations, direct Sanger sequencing...
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: Molecular Genetics & Genomic Medicine
سال: 2020
ISSN: 2324-9269,2324-9269
DOI: 10.1002/mgg3.1470