Charcot-Marie-tooth disease type 1A Association with a spontaneous point mutation in the PMP22 gene

Benjamin B. Roa; Carlos A. Garcia; Uelli Suter; Deanna A. Kulpa; Carol A. Wise; Jane Müller; Andrew A. Welcher; G. Jackson Snipes; Eric M. Shooter; Pragna I. Patel; James R. Lupski

doi:10.1007/BF00866335

Charcot-Marie-tooth disease type 1A Association with a spontaneous point mutation in the PMP22 gene

Benjamin B. Roa, Carlos A. Garcia, Uelli Suter, Deanna A. Kulpa, Carol A. Wise, Jane Müller, Andrew A. Welcher, G. Jackson Snipes, Eric M. Shooter, Pragna I. Patel, James R. Lupski

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

Original language	English (US)
Pages (from-to)	284
Number of pages	1
Journal	Pediatric Nephrology
Volume	8
Issue number	3
DOIs	https://doi.org/10.1007/BF00866335
State	Published - Jun 1994

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Nephrology

Access to Document

10.1007/BF00866335

Cite this

@article{b56a0ae4ad6245b0bf0843330756e7ad,

title = "Charcot-Marie-tooth disease type 1A Association with a spontaneous point mutation in the PMP22 gene",

author = "Roa, {Benjamin B.} and Garcia, {Carlos A.} and Uelli Suter and Kulpa, {Deanna A.} and Wise, {Carol A.} and Jane M{\"u}ller and Welcher, {Andrew A.} and Snipes, {G. Jackson} and Shooter, {Eric M.} and Patel, {Pragna I.} and Lupski, {James R.}",

year = "1994",

month = jun,

doi = "10.1007/BF00866335",

language = "English (US)",

volume = "8",

pages = "284",

journal = "Pediatric Nephrology",

issn = "0931-041X",

publisher = "Springer Verlag",

number = "3",

}

TY - JOUR

T1 - Charcot-Marie-tooth disease type 1A Association with a spontaneous point mutation in the PMP22 gene

AU - Roa, Benjamin B.

AU - Garcia, Carlos A.

AU - Suter, Uelli

AU - Kulpa, Deanna A.

AU - Wise, Carol A.

AU - Müller, Jane

AU - Welcher, Andrew A.

AU - Snipes, G. Jackson

AU - Shooter, Eric M.

AU - Patel, Pragna I.

AU - Lupski, James R.

PY - 1994/6

Y1 - 1994/6

UR - http://www.scopus.com/inward/record.url?scp=34249770113&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=34249770113&partnerID=8YFLogxK

U2 - 10.1007/BF00866335

DO - 10.1007/BF00866335

M3 - Article

AN - SCOPUS:34249770113

SN - 0931-041X

VL - 8

SP - 284

JO - Pediatric Nephrology

JF - Pediatric Nephrology

IS - 3

ER -

Charcot-Marie-tooth disease type 1A Association with a spontaneous point mutation in the PMP22 gene

ASJC Scopus subject areas

Access to Document

Other files and links

Cite this