| 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: Wiley Periodicals, Inc., 2005, roč. 31/2004, č. 2, s. 252-255. ISSN 0148-639X. |
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@article{571750,
author = {Vondráček, Petr and Seeman, Pavel and Hermanová, Markéta and Fajkusová, Lenka},
article_location = {USA},
article_number = {2},
keywords = {Charcot-Maria-Tooth disease; CMTX1; connexin 32; gap junction protein beta 1; hereditary motor and sensory neuropathy; X-linked},
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 = {31/2004},
year = {2005}
}
TY - JOUR
ID - 571750
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 - 31/2004
IS - 2
SP - 252-255
EP - 252-255
PB - Wiley Periodicals, Inc.
SN - 0148639X
KW - Charcot-Maria-Tooth disease
KW - CMTX1
KW - connexin 32
KW - gap junction protein beta 1
KW - hereditary motor and sensory neuropathy
KW - X-linked
N2 - The family with X-linked Charcot-Maria-Tooth disease in which the novel mutation Ile 127Ser in the GJB1 (connexin 32) gene is presented.
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: Wiley Periodicals, Inc., 2005, roč.~31/2004, č.~2, s.~252-255. ISSN~0148-639X.
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