| VONDRÁČEK, Petr, Pavel SEEMAN, Markéta HERMANOVÁ a Lenka FAJKUSOVÁ. X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene. Muscle Nerve. USA: John Wiley & Sons Inc, 2005, roč. 31, č. 2, s. 252-255. ISSN 0148-639X. |
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@article{599585,
author = {Vondráček, Petr and Seeman, Pavel and Hermanová, Markéta and Fajkusová, Lenka},
article_location = {USA},
article_number = {2},
keywords = {X-linked Charcot-Marie-Tooth disease; Ile127Ser mutation; GJB1 gene},
language = {eng},
issn = {0148-639X},
journal = {Muscle Nerve},
title = {X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene},
volume = {31},
year = {2005}
}
TY - JOUR
ID - 599585
AU - Vondráček, Petr - Seeman, Pavel - Hermanová, Markéta - Fajkusová, Lenka
PY - 2005
TI - X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene
JF - Muscle Nerve
VL - 31
IS - 2
SP - 252-255
EP - 252-255
PB - John Wiley & Sons Inc
SN - 0148639X
KW - X-linked Charcot-Marie-Tooth disease
KW - Ile127Ser mutation
KW - GJB1 gene
N2 - We report a family with X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Three affected family members are described, who underwent detailed clinical, electrophysiological, molecular genetic, and histopathological studies. A novel isoleucine at position 127 with serine (Ile127Ser) mutation in the gap junction protein beta 1 (GJB1) gene was detected.
ER -
VONDRÁČEK, Petr, Pavel SEEMAN, Markéta HERMANOVÁ a Lenka FAJKUSOVÁ. X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene. \textit{Muscle Nerve}. USA: John Wiley \&{} Sons Inc, 2005, roč.~31, č.~2, s.~252-255. ISSN~0148-639X.
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