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late infantile-onset neuronal ceroid lipofuscinosis type 7

Wednesday 31 October 2007

Etiology

- germline mutations in late infantile-onset neuronal ceroid lipofuscinosis type 7 (CLN7) (MIM.610951)

See also

- neuronal ceroid lipofuscinoses

References

- Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am J Hum Genet. 2007 Jul;81(1):136-46. PMID: 17564970