PMID- 10191125
OWN - NLM
STAT- MEDLINE
DCOM- 19990622
LR  - 20100825
IS  - 1096-7192 (Print)
IS  - 1096-7192 (Linking)
VI  - 66
IP  - 4
DP  - 1999 Apr
TI  - A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7.
PG  - 337-8
AB  - To date two genes are known to be involved in variant LINCL, CLN5 and CLN6, which
      map to chromosomes 13q21 and 15q21-23. A subset of Turkish families with a
      variant phenotype has been identified. Affected individuals have curvilinear
      bodies and fingerprint profiles on EM but are recombinant at CLN5 and CLN6. These
      families appear to represent a new locus. Homozygosity mapping is being used to
      map this locus, which has been designated CLN7.
CI  - Copyright 1999 Academic Press.
FAU - Wheeler, R B
AU  - Wheeler RB
AD  - Department of Paediatrics, University College London Medical School, The Rayne
      Institute, University Street, London, WC1E 6JJ, United Kingdom.
FAU - Sharp, J D
AU  - Sharp JD
FAU - Mitchell, W A
AU  - Mitchell WA
FAU - Bate, S L
AU  - Bate SL
FAU - Williams, R E
AU  - Williams RE
FAU - Lake, B D
AU  - Lake BD
FAU - Gardiner, R M
AU  - Gardiner RM
LA  - eng
GR  - Wellcome Trust/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Mol Genet Metab
JT  - Molecular genetics and metabolism
JID - 9805456
SB  - IM
MH  - DNA Mutational Analysis
MH  - Female
MH  - Genotype
MH  - Humans
MH  - Male
MH  - Microsatellite Repeats
MH  - Neuronal Ceroid-Lipofuscinoses/*genetics
MH  - Pedigree
EDAT- 1999/04/07 00:00
MHDA- 1999/04/07 00:01
CRDT- 1999/04/07 00:00
PHST- 1999/04/07 00:00 [pubmed]
PHST- 1999/04/07 00:01 [medline]
PHST- 1999/04/07 00:00 [entrez]
AID - S1096-7192(99)92804-4 [pii]
AID - 10.1006/mgme.1999.2804 [doi]
PST - ppublish
SO  - Mol Genet Metab. 1999 Apr;66(4):337-8. doi: 10.1006/mgme.1999.2804.