A new locus for variant late infantile neuronal ceroid lipofuscinosis - CLN7

Molecular Genetics and Metabolism

Volumn 66, Issue 4, 1999, Pages 337-338

  Wheeler, R B ^a   Sharp, J D ^a   Mitchell, W A ^a   Bate, S L ^a   Williams, R E ^a   Lake, B D ^b   Gardiner, R M ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

CLN7; Homozygosity mapping; LINCL; Variant LINCL

Indexed keywords

DNA;

CHROMOSOME 13Q; CHROMOSOME 15Q; CONFERENCE PAPER; FEMALE; GENE LOCUS; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; NEURONAL CEROID LIPOFUSCINOSIS; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; TURKEY (REPUBLIC);

EID: 0032775827     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1999.2804     Document Type: Conference Paper

References (5)

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3. Savukoski M, Kestila M, Williams R, Jarvela I, Sharp J, Harris J, Santavuori P, Gardiner M, Peltonen L. Defined chromosomal assignment ofCLN5. Am J Hum Genet. 55:1994;695-701.
4. Miller S A, Dykes D D, Polesky H F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:1988;1215.
5. Lander E S, Botstein D. Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children. Science. 236:1987;1567-1570.