-
Something wrong with this record ?
Hearing loss as the first feature of late-onset axonal CMT disease due to a novel PO mutation
Pavel Seeman, R. Mazanec, K. Huehne
Language English Country United States
Document type Case Reports
Persistent link
https://www.medvik.cz/link/bmc05013397
Grant support
NF6504
MZ0
CEP Register
Digital library NLK
Full text - Část
Source
- MeSH
- Point Mutation MeSH
- Charcot-Marie-Tooth Disease genetics MeSH
- Adult MeSH
- Research Support as Topic MeSH
- Humans MeSH
- Mutation, Missense MeSH
- Myelin P0 Protein genetics MeSH
- Hearing Loss, Sensorineural genetics MeSH
- Hearing Disorders genetics MeSH
- Reflex, Pupillary genetics MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Publication type
- Case Reports MeSH
- 000
- 00000naa a2200000 a 4500
- 001
- bmc05013397
- 003
- CZ-PrNML
- 005
- 20130117110131.0
- 008
- 060104s2004 xxu u eng||
- 009
- AR
- 040 __
- $a ABA008 $b cze $c ABA008 $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a xxu
- 100 1_
- $a Seeman, Pavel, $d 1966- $4 aut $7 xx0037870
- 245 10
- $a Hearing loss as the first feature of late-onset axonal CMT disease due to a novel PO mutation / $c Pavel Seeman, R. Mazanec, K. Huehne
- 314 __
- $a Department of Child Neurology, Second School of Medicine, Charles University Prague 5, CZ
- 650 _2
- $a Charcotova-Marieova-Toothova nemoc $x genetika $7 D002607
- 650 _2
- $a poruchy sluchu $x genetika $7 D006311
- 650 _2
- $a percepční nedoslýchavost $x genetika $7 D006319
- 650 _2
- $a missense mutace $7 D020125
- 650 _2
- $a bodová mutace $7 D017354
- 650 _2
- $a myelinový P0 protein $x genetika $7 D018993
- 650 _2
- $a reflex pupilární $x genetika $7 D012025
- 650 _2
- $a dospělí $7 D000328
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a finanční podpora výzkumu jako téma $7 D012109
- 655 _2
- $a kazuistiky $7 D002363
- 700 1_
- $a Mazanec, Radim, $d 1959- $4 aut $7 xx0037204
- 700 1_
- $a Huehne, K. $4 aut
- 700 1_
- $a Suslikova, P. $4 aut
- 700 1_
- $a Keller, Otakar, $d 1945-2014 $4 aut $7 jn20000710178
- 700 1_
- $a Rautenstrauss, B. $4 aut
- 773 0_
- $w MED00003491 $t Neurology $g Roč. 63, č. 4 (2004), s. 733-735 $x 0028-3878
- 910 __
- $a ABA008 $b x $y 0
- 990 __
- $a 20060112 $b ABA008
- 991 __
- $a 20130117110245 $b ABA008
- BAS __
- $a 3
- BMC __
- $a 2004 $b Roč. 63 $c č. 4 $d s. 733-735 $i 0028-3878 $m Neurology $x MED00003491
- GRA __
- $a NF6504 $p MZ0
