Opening hours: Monday to Friday from 8.00 to 14.00, Wednesdays to 17.00 and Saturdays from 9.00 to 13.00. ČUK reading room opening hours: Monday to Saturday from 12.00 to 24.00, closed on Saturday. Information: 02 25 07 431, ukm@um.si
13.
Molekularno-genetske in molekularno-citogenetske tehnike pri diagnostiki hereditarne mišično senzorne nevropatije (HMSN) tipa 1A : doktorska disertacija
Stangler Herodež, Špela
Hereditarna mišično senzorna nevropatija (HMSN) je genetsko in klinično raznovrstno obolenje. Hereditarna mišično senzorna nevropatija tipa 1A (HMSN1A) nastane zaradi podvojitve gena PMP22. Klinično ...različna, genetsko pa s HMSN1A povezana nevropatija, je dedna nagnjenost k utesnitvenim parezam (HNPP), ki je posledica delecije istega gena. Genetska diagnostika HMSN1A in HNPP ne sodi med rutinske postopke genetskega laboratorija, ker je natančna določitev števila kopij posameznega odseka v genomu do nedavnega predstavljala tehnološki problem. Z uporabo nove metode, kot je hkratno pomnoževanje od ligacije odvisnih prob (MLPA), je mogoče zanesljivo določiti število kopij posameznega odseka v človeškem genomu. Namen doktorske disertacije je bil ovrednotenje uporabnosti metode MLPA, za odkrivanje specifične 1,5 Mb duplikacije/delecije prisotne pri HMSN1A/HNPP. Primerjali smo jo z obstoječima metodama FISH (fluorescentna "in situ" hibridizacija) in PCR (reakcija verižne polimerizacije) in opravili natančno analizo rezultatov.
Type of material - dissertation
; adult, serious
Publication and manufacture - Maribor : [Š. Stangler Herodež], 2006
It was not necessary to add the material to the shelf.
Bibliographic material was successfully added on shelf.
Adding bibliographical material on shelf was not successful.
Material is already on the shelf.
Permalink
URL:
Impact factor
Access to the JCR database is permitted only to users from Slovenia. Your current IP address is not on the list of IP addresses with access permission, and authentication with the relevant AAI accout is required.
Year
Impact factor
Edition
Category
Classification
JCR
SNIP
JCR
SNIP
JCR
SNIP
JCR
SNIP
Select the library membership card:
DRS,
in which the journal is indexed
Database name
Field
Year
Links to authors' personal bibliographies
Links to information on researchers in the SICRIS system
Subject headings in COBISS General List of Subject Headings
Select pickup location
The material from the parent unit is free. If the material is delivered to the pickup location from another unit, the library may charge you for this service.
