De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.

Melki, J; Lefebvre, S; Burglen, L; Burlet, P; Clermont, O; Millasseau, P; Reboullet, S; Bénichou, B; Zeviani, M; Le Paslier, D

Melki, J; Lefebvre, S; Burglen, L; Burlet, P; Clermont, O; Millasseau, P; Reboullet, S; Bénichou, B; Zeviani, M; Le Paslier, D.

Affiliation

Melki J; Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, Hôpital des Enfants-Malades, Paris, France.

Science ; 264(5164): 1474-7, 1994 Jun 03.

Article in En | MEDLINE | ID: mdl-7910982

Subject(s)

Chromosomes, Human, Pair 5; Gene Deletion; Muscular Atrophy, Spinal/genetics; Spinal Muscular Atrophies of Childhood/genetics; Alleles; Base Sequence; Chromosomes, Artificial, Yeast; Female; Genetic Markers; Humans; Male; Molecular Sequence Data; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Repetitive Sequences, Nucleic Acid

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Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 5 / Muscular Atrophy, Spinal / Spinal Muscular Atrophies of Childhood / Gene Deletion Limits: Female / Humans / Male Language: En Journal: Science Year: 1994 Type: Article Affiliation country: France

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