Molecular Characterisation and Prenatal Diagnosis of Asparto-acylase Deficiency (Canavan Disease)-Report of Two Novel and Two Known Mutations from the Indian Subcontinent

S. Bijarnia; S. Kohli; R.D. Puri; R.J. Jacob; R. Saxena; A. Jalan; E.A. Sistermans; S. Mahmood; I.C. Verma

doi:10.1007/s12098-012-0862-1

Molecular Characterisation and Prenatal Diagnosis of Asparto-acylase Deficiency (Canavan Disease)-Report of Two Novel and Two Known Mutations from the Indian Subcontinent

S. Bijarnia, S. Kohli, R.D. Puri, R.J. Jacob, R. Saxena, A. Jalan, E.A. Sistermans, S. Mahmood, I.C. Verma

Human genetics

Research output: Contribution to journal › Article › Academic › peer-review

Original language	Undefined/Unknown
Pages (from-to)	26-31
Journal	Indian Journal of Pediatrics
Volume	80
Issue number	1
DOIs	https://doi.org/10.1007/s12098-012-0862-1
Publication status	Published - 2013

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10.1007/s12098-012-0862-1

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Bijarnia, S., Kohli, S., Puri, R. D., Jacob, R. J., Saxena, R., Jalan, A., Sistermans, E. A., Mahmood, S., & Verma, I. C. (2013). Molecular Characterisation and Prenatal Diagnosis of Asparto-acylase Deficiency (Canavan Disease)-Report of Two Novel and Two Known Mutations from the Indian Subcontinent. Indian Journal of Pediatrics, 80(1), 26-31. https://doi.org/10.1007/s12098-012-0862-1

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author = "S. Bijarnia and S. Kohli and R.D. Puri and R.J. Jacob and R. Saxena and A. Jalan and E.A. Sistermans and S. Mahmood and I.C. Verma",

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Bijarnia, S, Kohli, S, Puri, RD, Jacob, RJ, Saxena, R, Jalan, A, Sistermans, EA, Mahmood, S & Verma, IC 2013, 'Molecular Characterisation and Prenatal Diagnosis of Asparto-acylase Deficiency (Canavan Disease)-Report of Two Novel and Two Known Mutations from the Indian Subcontinent', Indian Journal of Pediatrics, vol. 80, no. 1, pp. 26-31. https://doi.org/10.1007/s12098-012-0862-1

TY - JOUR

T1 - Molecular Characterisation and Prenatal Diagnosis of Asparto-acylase Deficiency (Canavan Disease)-Report of Two Novel and Two Known Mutations from the Indian Subcontinent

AU - Bijarnia, S.

AU - Kohli, S.

AU - Puri, R.D.

AU - Jacob, R.J.

AU - Saxena, R.

AU - Jalan, A.

AU - Sistermans, E.A.

AU - Mahmood, S.

AU - Verma, I.C.

PY - 2013

Y1 - 2013

U2 - 10.1007/s12098-012-0862-1

DO - 10.1007/s12098-012-0862-1

M3 - Article

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SN - 0019-5456

VL - 80

SP - 26

EP - 31

JO - Indian Journal of Pediatrics

JF - Indian Journal of Pediatrics

IS - 1

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