Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome (2002)
- Authors:
- USP affiliated authors: BUENO, MARIA RITA DOS SANTOS E PASSOS - IB ; ROSEMBERG, SERGIO - FM
- Unidades: IB; FM
- Subjects: DEGENERAÇÃO RETINIANA; DOENÇAS RETINIANAS; CEGUEIRA
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: American Journal of Human Genetics
- Volume/Número/Paginação/Ano: v. 71, p. 1320-1329, 2002
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ABNT
SUZUKI, Oscar T. et al. Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome. American Journal of Human Genetics, v. 71, p. 1320-1329, 2002Tradução . . Acesso em: 11 maio 2024. -
APA
Suzuki, O. T., Sertié, A. L., Der Kaloustian, V. M., Kok, F., Carpenter, M., Murray, J., et al. (2002). Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome. American Journal of Human Genetics, 71, 1320-1329. -
NLM
Suzuki OT, Sertié AL, Der Kaloustian VM, Kok F, Carpenter M, Murray J, Czeizel AE, Kliemann SE, Rosemberg S, Monteiro M, Olsen BR, Passos-Bueno MR. Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome. American Journal of Human Genetics. 2002 ; 71 1320-1329.[citado 2024 maio 11 ] -
Vancouver
Suzuki OT, Sertié AL, Der Kaloustian VM, Kok F, Carpenter M, Murray J, Czeizel AE, Kliemann SE, Rosemberg S, Monteiro M, Olsen BR, Passos-Bueno MR. Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome. American Journal of Human Genetics. 2002 ; 71 1320-1329.[citado 2024 maio 11 ] - Evidence of neuronal migration disorders in knobloch syndrome: clinical and molecular analysis of two novel families
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