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Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24

Blepharophimosis-ptosis is an autosomal dominant disorder in which previous chromosome rearrangements have suggested a putative gene location on the long arm of chromosome 3. This paper confirms the location at 3q21-24 with linkage studies in two large families. A lod score of 3·2 was found with D3S...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Harrar, H S, Jeffery, S, Patton, M A
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1995
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051698/
https://ncbi.nlm.nih.gov/pubmed/8558553
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