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5 results for author:"Penchaszadeh G.K." in Literature citations

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Association between lipoprotein lipase (LPL) gene and blood lipids: a common variant for a common trait?

Morabia A., Cayanis E., Costanza M.C., Ross B.M., Bernstein M.S., Flaherty M.S., Alvin G.B., Das K., Morris M.A., Penchaszadeh G.K. et al.

Genet. Epidemiol. 24:309-321(2003) · Mapped (9)

TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.

Banerjee P., Kleyn P.W., Knowles J.A., Lewis C.A., Ross B.M., Parano E., Kovats S.G., Lee J.J., Penchaszadeh G.K., Ott J. et al.

Nat. Genet. 18:177-179(1998) · UniProtKB (1)

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.

Shah A.B., Chernov I., Zhang H.T., Ross B.M., Das K., Lutsenko S., Parano E., Pavone L., Evgrafov O., Ivanova-Smolenskaya I.A. et al.

Am. J. Hum. Genet. 61:317-328(1997) · UniProtKB (1)

A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions.

Carter T.A., Bonnemann C.G., Wang C.H., Obici S., Parano E., Bonaldo M.F., Ross B.M., Penchaszadeh G.K., Mackenzie A.E., Soares M.B. et al.

Hum. Mol. Genet. 6:229-236(1997) · UniProtKB (1)

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.

Tanzi R.E., Petrukhin K., Chernov I., Pellequer J.L., Wasco W., Ross B., Romano D.M., Parano E., Pavone L., Brzustowicz L.M. et al.

Nat. Genet. 5:344-350(1993) · UniProtKB (1)

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