Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes-Reference-Cited by-同舟云学术

Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes

Published:1999-10 Issue:4 Volume:65 Page:974-983
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Annunen Susanna,Körkkö Jarmo,Czarny Malwina,Warman Matthew L.,Brunner Han G.,Kääriäinen Helena,Mulliken John B.,Tranebjærg Lisbeth,Brooks David G.,Cox Gerald F.,Cruysberg Johan R.,Curtis Mary A.,Davenport Sandra L.H.,Friedrich Christopher A.,Kaitila Ilkka,Krawczynski Maciej Robert,Latos-Bielenska Anna,Mukai Shitzuo,Olsen Björn R.,Shinno Nancy,Somer Mirja,Vikkula Miikka,Zlotogora Joel,Prockop Darwin J.,Ala-Kokko Leena

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

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4. Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene;Bonaventure;Hum Genet,1992

5. Genetic mutations at the C-terminal end of the procollagen II gene in Stickler syndrome, (hereditary arthro-ophthalmopathy) and identification and phenotypic description of a new mutation;Brown;Am J Hum Genet Suppl,1993

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