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Results: 2
DE-NOVO DELETIONS IN SPINAL MUSCULAR-ATROPHY - IMPLICATIONS FOR GENETIC-COUNSELING
Authors: RACLIN V VEBER PS BURGLEN L MUNNICH A MELKI J
Citation: V. Raclin et al., DE-NOVO DELETIONS IN SPINAL MUSCULAR-ATROPHY - IMPLICATIONS FOR GENETIC-COUNSELING, Journal of Medical Genetics, 34(1), 1997, pp. 86-87
A 3-BASE PAIR IN-FRAME DELETION IN EXON-8 (DELGLU272 273) OF THE ORNITHINE TRANSCARBAMYLASE GENE IN LATE-ONSET HYPERAMMONEMIC COMA/
Authors: SEGUES B VEBER PS RABIER D CALVAS P SAUDUBRAY JM GILBERTDUSSARDIER B BONNEFONT JP MUNNICH A
Citation: B. Segues et al., A 3-BASE PAIR IN-FRAME DELETION IN EXON-8 (DELGLU272 273) OF THE ORNITHINE TRANSCARBAMYLASE GENE IN LATE-ONSET HYPERAMMONEMIC COMA/, Human mutation, 8(4), 1996, pp. 373-374
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