Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy

European Journal of Human Genetics

Volumn 18, Issue 4, 2010, Pages 505-508

  Burlet, Philippe ^a   Gigarel, Nadine ^a   Magen, Maryse ^a   Drunat, Séverine ^b   Benachi, Alexandra ^c   Hesters, Laetitia ^a   Munnich, Arnold ^a   Bonnefont, Jean Paul ^a   Steffann, Julie ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c Service d'Histo embryologie Cytogenetique   (France)

Author keywords

De novo mutation; Preimplantation genetic diagnosis; Prenatal diagnosis; Single sperm analysis; Spinal muscular atrophy

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2;

ARTICLE; CONTROLLED STUDY; GENE AMPLIFICATION; GENETIC RISK; HAPLOTYPE; HETEROZYGOSITY; HUMAN; HUMAN CELL; MICROSATELLITE MARKER; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RECURRENCE RISK; RESTRICTION MAPPING; RISK ASSESSMENT; SEMEN ANALYSIS; SPINAL MUSCULAR ATROPHY;

EID: 77949653407     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.198     Document Type: Article

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