A unique point mutation in the PMP22 gene is associated with Deafness, Charcot‐Marie-Tooth and Anticipation

V. E. Kimonis; M. J. Kovach; J. P. Lin; S. Boyadjiev; K. Campbell; L. Mazzeo; K. Herman; W. Frank; B. Llewellyn; E. W. Jabs; D. Gelber

doi:10.1097/00125817-199901000-00018

A unique point mutation in the PMP22 gene is associated with Deafness, Charcot‐Marie-Tooth and Anticipation

V. E. Kimonis, M. J. Kovach, J. P. Lin, S. Boyadjiev, K. Campbell, L. Mazzeo, K. Herman, W. Frank, B. Llewellyn, E. W. Jabs, D. Gelber

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	44
Number of pages	1
Journal	Genetics in Medicine
Volume	1
Issue number	2
DOIs	https://doi.org/10.1097/00125817-199901000-00018
State	Published - 1999
Externally published	Yes

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10.1097/00125817-199901000-00018

Cite this

@article{09521740568c4f17923637a98936ecea,

title = "A unique point mutation in the PMP22 gene is associated with Deafness, Charcot‐Marie-Tooth and Anticipation",

author = "Kimonis, {V. E.} and Kovach, {M. J.} and Lin, {J. P.} and S. Boyadjiev and K. Campbell and L. Mazzeo and K. Herman and W. Frank and B. Llewellyn and Jabs, {E. W.} and D. Gelber",

year = "1999",

doi = "10.1097/00125817-199901000-00018",

language = "English",

volume = "1",

pages = "44",

journal = "Genetics in Medicine",

issn = "1098-3600",

publisher = "Elsevier B.V.",

number = "2",

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TY - JOUR

T1 - A unique point mutation in the PMP22 gene is associated with Deafness, Charcot‐Marie-Tooth and Anticipation

AU - Kimonis, V. E.

AU - Kovach, M. J.

AU - Lin, J. P.

AU - Boyadjiev, S.

AU - Campbell, K.

AU - Mazzeo, L.

AU - Herman, K.

AU - Frank, W.

AU - Llewellyn, B.

AU - Jabs, E. W.

AU - Gelber, D.

PY - 1999

Y1 - 1999

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U2 - 10.1097/00125817-199901000-00018

DO - 10.1097/00125817-199901000-00018

M3 - Article

AN - SCOPUS:85026133038

SN - 1098-3600

VL - 1

SP - 44

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 2

ER -