The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland

Molecular Genetics and Metabolism

Volumn 66, Issue 4, 1999, Pages 245-247

  Stephenson, J B P ^a   Greene, N D E ^b   Leung, K Y ^b   Munroe, P B ^b   Mole, S E ^b   Gardiner, R M ^b   Taschner, P E M ^c   O'Regan, M ^d   Naismith, K ^e   Crow, Y J ^a   Mitchison, H M ^b  

^a NHS GREATER GLASGOW AND CLYDE   (United Kingdom)

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

^c LEIDEN UNIVERSITY   (Netherlands)

^d ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^e NINEWELLS HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CEROID; LIPOFUSCIN;

CLINICAL FEATURE; CONFERENCE PAPER; DISEASE CLASSIFICATION; GENE MUTATION; GENOTYPE; HUMAN; MOLECULAR GENETICS; NEURONAL CEROID LIPOFUSCINOSIS; PHENOTYPE; PRIORITY JOURNAL; UNITED KINGDOM;

EID: 0032811445     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1999.2831     Document Type: Conference Paper

References (5)

1. Crow Y J, Tolmie J L, Howatson A G, Patrick W JA, Stephenson J BP. Batten disease in the west of Scotland 1974-1995 including five cases of the juvenile form with granular osmiophilic deposits. Neuropaediatrics. 28:1997;140-144.
2. Vesa J, Hellsten E, Verkruyse L A, Camp L A, Rapola J, Santavuori P, Hofmann S L, Peltonen L. Mutations in the palmitoyl-protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature. 376:1995;584-587.
3. Mitchison H M, Hofmann S L, Becerra C HR, Munroe P B, Lake B D, Crow Y J, Stephenson J BP, Williams R E, Hofman I L, Taschner P EM, Martin J-J, Philippart M, Andermann E, Andermann F, Mole S E, Gardiner R M, O'Rawe A M. Mutations in palmitoyl-protein thioesterase gene (PPT; CLN1. Hum Mol Genet. 7:1998;291-297.
4. Munroe P B, Greene N DE, Leung K Y, Mole S E, Gardiner R M, Stephenson J BP, Crow Y J, Mitchison H M. Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland. J Med Genet. 35:1998;790.
5. Das A K, Becerra C HR, Yi W, Lu J-Y, Siakotos A N, Wisniewski K E, Hofmann S L. Molecular genetics of palmitoyl-protein thioesterase deficiency in the U. S. J Clin Invest. 102:1998;361-370.