A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.

Toriello, H V; Glover, T W; Takahara, K; Byers, P H; Miller, D E; Higgins, J V; Greenspan, D S

Toriello, H V; Glover, T W; Takahara, K; Byers, P H; Miller, D E; Higgins, J V; Greenspan, D S.

Affiliation

Toriello HV; Cytogenetics Laboratory, Butterworth Hospital, Grand Rapids, Michigan 49503, USA.

Nat Genet ; 13(3): 361-5, 1996 Jul.

Article in En | MEDLINE | ID: mdl-8673139

Subject(s)

Collagen/genetics; Ehlers-Danlos Syndrome/genetics; Pigmentation Disorders/genetics; Translocation, Genetic; Base Sequence; Blotting, Northern; Child; Chromosomes, Human, Pair 9; Ehlers-Danlos Syndrome/complications; Electrophoresis, Polyacrylamide Gel; Humans; Molecular Sequence Data; Mutation; Pigmentation Disorders/complications; Polymerase Chain Reaction; Sequence Analysis, DNA; X Chromosome

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Database: MEDLINE Main subject: Pigmentation Disorders / Translocation, Genetic / Collagen / Ehlers-Danlos Syndrome Limits: Child / Humans Language: En Year: 1996 Type: Article

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