Sökning: "complete penetrance"
Visar resultat 1 - 5 av 6 avhandlingar innehållade orden complete penetrance.
1. Amyotrophic lateral sclerosis (ALS) associated with superoxide dismutase 1 (SOD1) mutations in British Columbia, Canada : clinical, neurophysiological and neuropathological features
Sammanfattning : Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by loss of motor neurons and their supporting cells in the brain, brainstem and spinal cord, resulting in muscle paresis and paralysis including the bulbar (speech, chewing, swallowing) and respiratory muscles. The average age at onset is 55 years, and death due to respiratory failure occurs 2-5 years after symptom onset in ~ 85% of cases. LÄS MER
2. Hereditary breast and ovarian cancer in western Sweden with a special focus on BRCA1 3171ins5 mutation
Sammanfattning : Aims: To describe the phenotype and geographic distribution of the western Swedish founder mutation BRCA1 3171ins5, evaluate the reliability of mutation analysis of this mutation on archival material, analyse the haplotype for founder effects in families with BRCA1 3171ins5 mutation, estimate the age of this mutation and evaluate whether the occurrence of both breast and ovarian cancers in the same women may be a marker of a BRCA gene mutation. Materials and methods: The first study was based on 16 families with BRCA1 3171ins5 mutation and the second study was based on 18 families with the same mutation. LÄS MER
3. Methodological aspects and usefulness of Quantitative Sensory Testing in early small fiber polyneuropathy : a clinical study in Swedish hereditary transthyretin amyloidosis patients
Sammanfattning : Generalised polyneuropathy (PNP) is a common cause to neurological impairment, and may be an early symptom of a severe systemic disease. One such illness is hereditary transthyretin (TTR) amyloidosis (ATTR), a progressive fatal disorder caused by a mutation on the TTR gene. LÄS MER
4. Mitotic failure and genome stability in benign, premalignant and malignant human tissues
Sammanfattning : Mitotic failure may occur throughout the human lifespan. Individual nuclear mistakes will escape detection within the mass of somatic cells. The probability of nondetection increases with progression in development. LÄS MER
5. Different genetic pathways involved in colorectal cancer
Sammanfattning : Colorectal cancer (CRC) is one of the three leading causes of cancer mortality worldwide with an incidence of approximately one million cases and a mortality of 500 000 annually. Identification of different pathways involved in tumorigenesis of both familial and sporadic colorectal cancer may led to a major breakthrough in the prevention of this potentially curable disease. LÄS MER