منابع مشابه
Progressive microcephaly is caused by compound-heterozygous mutations in QARS.
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures Zhang et al. (2014) The American Journal of Human Genetics;94(4):547-558.
متن کاملNovel compound aquaporin 2 mutations in nephrogenic diabetes insipidus
Nephrogenic diabetes insipidus (NDI) is a rare disease that is characterized by the excretion of abnormally large volumes of urine, due to the inability of the kidneys to concentrate urine in response to arginine vasopressin (AVP). Classical NDI symptoms include polydipsia and polyuria in infants during the first year of life. Acquired NDI is the most common form of this disease in adults. The ...
متن کاملPhenotypic Discordance in Siblings with Identical Compound Heterozygous PARK2 Mutations
PARK2 mutations are the most common cause of early-onset Parkinson's disease. No genotype-phenotype correlation exists, and phenotypic variability is quite common. We report two siblings with confirmed identical compound heterozygous mutations in the PARK2 gene manifesting strikingly different phenotypes. The older brother demonstrated marked parkinsonism by his mid-20's, whereas the younger br...
متن کاملCompound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.
Segmentation defects of the vertebrae (SDV) are caused by aberrant somite formation during embryogenesis and result in irregular formation of the vertebrae and ribs. The Notch signal transduction pathway plays a critical role in somite formation and patterning in model vertebrates. In humans, mutations in several genes involved in the Notch pathway are associated with SDV, with both autosomal r...
متن کاملAutomatic Program Repair with Condition Synthesis and Compound Mutations
We present PCR, a new automatic patch generation system. PCR uses a new condition synthesis technique to efficiently discover logical expressions that generate desired controlflow transfer patterns. Presented with a set of test cases, PCR deploys condition synthesis to find and repair incorrect if conditions that cause the application to produce the wrong result for one or more of the test case...
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: Circulation
سال: 2004
ISSN: 0009-7322,1524-4539
DOI: 10.1161/01.cir.0000125524.34234.13