IgM Augments Complement Bactericidal Activity with Serum from a Patient with a Novel CD79a Mutation

A Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease

                 

f/sla from learner perspectives: a social activity or a cognitive process

in the past couple of decades sociocultural theory of sla and its implications in efl contexts have attracted attentions of research circles worldwide and aroused some controversies. firth and wagner (1997) have questioned the principles of the cognitive view which gives importance to mental constructs in favor of sociocultural view which highlights social and contextual constructs. but if soci...

a novel pkd1 mutation in a patient with autosomal dominant polycystic kidney disease

a novel deletion mutation of the tyr gene in a patient with oculocutaneous albinism type 1a

introduction oculocutaneous albinism (oca) is a genetically heterogeneous autosomal recessive genetic disorder that is characterized by reduced or completely absent pigmentation in the hair, skin, and eyes. conclusions a novel homozygous mutation, the deletion of exons 1 - 5 on the tyr gene, was found on the molecular genetic testing of this patient. exon 1 - 5 deletion on tyr causes a lack of ...

Hereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report

Hereditary ataxias (HA) are a group of inherited neurological disorders caused by changes in genes. At least 115 different mutations in the senataxin (SETX) gene causing ataxia have been identified. There are no reports of any SETX gene mutation among the Iranian population. Here we report on two cases with homozygous and heterozygous mutations in which one patient was affected by HA with oculo...