POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.

C. Diesen; A. Saarinen; H. Pihko; C. Rosenlew; B. Cormand; W. B. Dobyns; J. Dieguez; L. Valanne; T. Joensuu; A. E. Lehesjoki

doi:10.1136/jmg.2004.020701

POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.

C. Diesen, A. Saarinen, H. Pihko, C. Rosenlew, B. Cormand, W. B. Dobyns, J. Dieguez, L. Valanne, T. Joensuu, A. E. Lehesjoki

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

47 Scopus citations

Original language	English (US)
Pages (from-to)	e115
Journal	Journal of medical genetics
Volume	41
Issue number	10
DOIs	https://doi.org/10.1136/jmg.2004.020701
State	Published - Oct 2004
Externally published	Yes

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10.1136/jmg.2004.020701

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@article{f9845649377740f3b5955b92c63ab433,

title = "POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.",

author = "C. Diesen and A. Saarinen and H. Pihko and C. Rosenlew and B. Cormand and Dobyns, {W. B.} and J. Dieguez and L. Valanne and T. Joensuu and Lehesjoki, {A. E.}",

year = "2004",

month = oct,

doi = "10.1136/jmg.2004.020701",

language = "English (US)",

volume = "41",

pages = "e115",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "10",

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TY - JOUR

T1 - POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.

AU - Diesen, C.

AU - Saarinen, A.

AU - Pihko, H.

AU - Rosenlew, C.

AU - Cormand, B.

AU - Dobyns, W. B.

AU - Dieguez, J.

AU - Valanne, L.

AU - Joensuu, T.

AU - Lehesjoki, A. E.

PY - 2004/10

Y1 - 2004/10

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U2 - 10.1136/jmg.2004.020701

DO - 10.1136/jmg.2004.020701

M3 - Letter

C2 - 15466003

AN - SCOPUS:15944415302

VL - 41

SP - e115

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 10

ER -

POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.

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