Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion

N. M. Allen; B. O'hIci; G. Anderson; T. Nestor; S. Ann Lynch; M. D. King

doi:10.1111/j.1399-0004.2011.01777.x

Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion

N. M. Allen
, B. O'hIci
, G. Anderson
, T. Nestor
, S. Ann Lynch
, M. D. King

Children's University Hospital
Our Ladies Hospital for Sick Children
UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust

Research output: Contribution to a Journal (Peer & Non Peer) › Letter › peer-review

23 Citations (Scopus)

Original language	English
Pages (from-to)	602-604
Number of pages	3
Journal	Clinical Genetics
Volume	81
Issue number	6
DOIs	https://doi.org/10.1111/j.1399-0004.2011.01777.x
Publication status	Published - Jun 2012
Externally published	Yes

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10.1111/j.1399-0004.2011.01777.x

Cite this

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title = "Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion",

author = "Allen, \{N. M.\} and B. O'hIci and G. Anderson and T. Nestor and \{Ann Lynch\}, S. and King, \{M. D.\}",

year = "2012",

month = jun,

doi = "10.1111/j.1399-0004.2011.01777.x",

language = "English",

volume = "81",

pages = "602--604",

journal = "Clinical Genetics",

issn = "0009-9163",

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T1 - Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion

AU - Allen, N. M.

AU - O'hIci, B.

AU - Anderson, G.

AU - Nestor, T.

AU - Ann Lynch, S.

AU - King, M. D.

PY - 2012/6

Y1 - 2012/6

UR - https://www.scopus.com/pages/publications/84860580995

U2 - 10.1111/j.1399-0004.2011.01777.x

DO - 10.1111/j.1399-0004.2011.01777.x

M3 - Letter

C2 - 22220808

AN - SCOPUS:84860580995

SN - 0009-9163

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SP - 602

EP - 604

JO - Clinical Genetics

JF - Clinical Genetics

IS - 6

ER -

Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion

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