Llwytho...

Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome.

Forty-four percent of the fibrillin-1 gene (FBN1) from 19 unrelated families with Marfan syndrome was screened for putative mutations by single strand conformational polymorphism (SSCP) analysis. Four novel mutations were identified and characterised in five people, three with classical Marfan syndr...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Adès, L C, Haan, E A, Colley, A F, Richard, R I
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1996
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050701/
https://ncbi.nlm.nih.gov/pubmed/8863159
Tagiau: Ychwanegu Tag
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