RettBASE: The IRSA MECP2 variation database—a new mutation database in evolution
نویسندگان
چکیده
منابع مشابه
Thailand mutation and variation database (ThaiMUT).
With the completion of the human genome project, novel sequencing and genotyping technologies had been utilized to detect mutations. Such mutations have continually been produced at exponential rate by researchers in various communities. Based on the population's mutation spectra, occurrences of Mendelian diseases are different across ethnic groups. A proportion of Mendelian diseases can be obs...
متن کاملA thorough MECP2 mutation analysis
To the Editor: With great interest we have read the short report of Takahashi et al. entitled, Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome’. The report describes a novel missense MECP2 mutation (P.A447T) detected in a girl with Rett syndrome and her asymptomatic carrier mother. Results from X-chromoso...
متن کاملThe new mutation theory of phenotypic evolution.
Recent studies of developmental biology have shown that the genes controlling phenotypic characters expressed in the early stage of development are highly conserved and that recent evolutionary changes have occurred primarily in the characters expressed in later stages of development. Even the genes controlling the latter characters are generally conserved, but there is a large component of neu...
متن کاملMutation breeding, evolution, and the law of recurrent variation
In the present paper the history of the rise and fall of mutation breeding as an autonomous branch of breeding research is documented as well as its positive side effects for plant breeding and biology in general. Perhaps the most important generalization on the basis of the total outcome of mutation breeding will be termed “the law of recurrent variation”. It states that “treating homozygous l...
متن کاملMECP2 mutation analysis in patients with mental retardation.
Mutations in the methyl-CpG-binding protein 2 (MECP2) gene are known to underlie Rett' syndrome, the most common cause of mental retardation (MR) in girls. Since the original report, phenotypes resulting from MECP2 mutations have been shown to extend, for example, to several Rett variants, autism, atypical Angelman syndrome, and nonspecific MR. It was earlier proposed that MECP2 mutations might...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2003
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.10194