Savontaus ML - Search Results

1

Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).

Mykkänen J, Torrents D, Pineda M, Camps M, Yoldi ME, Horelli-Kuitunen N, Huoponen K, Heinonen M, Oksanen J, Simell O, Savontaus ML, Zorzano A, Palacín M, Aula P. Mykkänen J, et al. Among authors: savontaus ml. Hum Mol Genet. 2000 Feb 12;9(3):431-8. doi: 10.1093/hmg/9.3.431. Hum Mol Genet. 2000. PMID: 10655553

2

The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy.

Huoponen K, Lamminen T, Juvonen V, Aula P, Nikoskelainen E, Savontaus ML. Huoponen K, et al. Among authors: savontaus ml. Hum Genet. 1993 Oct;92(4):379-84. doi: 10.1007/BF01247339. Hum Genet. 1993. PMID: 7901141

3

Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.

Lauteala T, Sistonen P, Savontaus ML, Mykkänen J, Simell J, Lukkarinen M, Simell O, Aula P. Lauteala T, et al. Among authors: savontaus ml. Am J Hum Genet. 1997 Jun;60(6):1479-86. doi: 10.1086/515457. Am J Hum Genet. 1997. PMID: 9199570 Free PMC article.

4

Genetic homogeneity of lysinuric protein intolerance.

Lauteala T, Mykkänen J, Sperandeo MP, Gasparini P, Savontaus ML, Simell O, Andria G, Sebastio G, Aula P. Lauteala T, et al. Among authors: savontaus ml. Eur J Hum Genet. 1998 Nov-Dec;6(6):612-5. doi: 10.1038/sj.ejhg.5200236. Eur J Hum Genet. 1998. PMID: 9887380

5

Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.

Torrents D, Mykkänen J, Pineda M, Feliubadaló L, Estévez R, de Cid R, Sanjurjo P, Zorzano A, Nunes V, Huoponen K, Reinikainen A, Simell O, Savontaus ML, Aula P, Palacín M. Torrents D, et al. Among authors: savontaus ml. Nat Genet. 1999 Mar;21(3):293-6. doi: 10.1038/6809. Nat Genet. 1999. PMID: 10080182

6

Characterization of the lysinuric protein intolerance (LPI) region within T-cell receptor alpha/delta gene cluster on chromosome site 14q11.

Lauteala T, Mykkänen J, Horelli-Kuitunen N, Aaltonen J, Paavola P, Savontaus ML, Simell O, Aula P. Lauteala T, et al. Among authors: savontaus ml. Hereditas. 1999;130(1):19-24. doi: 10.1111/j.1601-5223.1999.00019.x. Hereditas. 1999. PMID: 10364825 Free article.

7

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus ML. Huoponen K, et al. Among authors: savontaus ml. Am J Hum Genet. 1991 Jun;48(6):1147-53. Am J Hum Genet. 1991. PMID: 1674640 Free PMC article.

8

Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.

Vilkki J, Ott J, Savontaus ML, Aula P, Nikoskelainen EK. Vilkki J, et al. Among authors: savontaus ml. Am J Hum Genet. 1991 Mar;48(3):486-91. Am J Hum Genet. 1991. PMID: 1998335 Free PMC article.

9

Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy.

Huoponen K, Vilkki J, Savontaus ML, Aula P, Nikoskelainen EK. Huoponen K, et al. Among authors: savontaus ml. Genomics. 1990 Nov;8(3):583-5. doi: 10.1016/0888-7543(90)90049-z. Genomics. 1990. PMID: 2286378

10

The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.

Haataja L, Schleutker J, Laine AP, Renlund M, Savontaus ML, Dib C, Weissenbach J, Peltonen L, Aula P. Haataja L, et al. Among authors: savontaus ml. Am J Hum Genet. 1994 Jun;54(6):1042-9. Am J Hum Genet. 1994. PMID: 8198127 Free PMC article.

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