Identification of a SEDL gene mutation in an individual with leber hereditary optic neuropathy and spondyloepiphyseal dysplasia [1]

Marie A. Shaw; Jozef Gécz; Barbara McDonough; Arthur B. Hodess; Donald H. Harter

doi:10.1002/ajmg.a.30161

Identification of a SEDL gene mutation in an individual with leber hereditary optic neuropathy and spondyloepiphyseal dysplasia [1]

Marie A. Shaw, Jozef Gécz, Barbara McDonough, Arthur B. Hodess, Donald H. Harter

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

Original language	English
Pages (from-to)	206-207
Number of pages	2
Journal	American Journal of Medical Genetics
Volume	129
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.a.30161
Publication status	Published or Issued - 30 Aug 2004
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Access to Document

10.1002/ajmg.a.30161

Cite this

@article{67ca6d1521f24d4eb4b51095f9a62702,

title = "Identification of a SEDL gene mutation in an individual with leber hereditary optic neuropathy and spondyloepiphyseal dysplasia [1]",

author = "Shaw, {Marie A.} and Jozef G{\'e}cz and Barbara McDonough and Hodess, {Arthur B.} and Harter, {Donald H.}",

year = "2004",

month = aug,

day = "30",

doi = "10.1002/ajmg.a.30161",

language = "English",

volume = "129",

pages = "206--207",

journal = "American Journal of Medical Genetics",

issn = "1552-4825",

publisher = "John Wiley and Sons Inc.",

number = "2",

}

TY - JOUR

T1 - Identification of a SEDL gene mutation in an individual with leber hereditary optic neuropathy and spondyloepiphyseal dysplasia [1]

AU - Shaw, Marie A.

AU - Gécz, Jozef

AU - McDonough, Barbara

AU - Hodess, Arthur B.

AU - Harter, Donald H.

PY - 2004/8/30

Y1 - 2004/8/30

UR - http://www.scopus.com/inward/record.url?scp=4344609514&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.30161

DO - 10.1002/ajmg.a.30161

M3 - Letter

C2 - 15316971

AN - SCOPUS:4344609514

SN - 1552-4825

VL - 129

SP - 206

EP - 207

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 2

ER -

Identification of a SEDL gene mutation in an individual with leber hereditary optic neuropathy and spondyloepiphyseal dysplasia [1]

ASJC Scopus subject areas

Access to Document

Other files and links

Cite this