Molecular Analysis of Collagen XVIII Reveals Novel Mutations, Presence of a Third Isoform, and Possible Genetic Heterogeneity in Knobloch Syndrome-Reference-Cited by-同舟云学术

Molecular Analysis of Collagen XVIII Reveals Novel Mutations, Presence of a Third Isoform, and Possible Genetic Heterogeneity in Knobloch Syndrome

Published:2002-12 Issue:6 Volume:71 Page:1320-1329
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Suzuki O.T.,Sertié A.L.,Der Kaloustian V.M.,Kok F.,Carpenter M.,Murray J.,Czeizel A.E.,Kliemann S.E.,Rosemberg S.,Monteiro M.,Olsen B.R.,Passos-Bueno M.R.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference30 articles.

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3. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction;Chomczynski;Anal Biochem,1987

4. The second report of Knobloch syndrome;Czeizel;Am J Med Genet,1992

5. Lack of type XV collagen causes a skeletal myopathy and cardiovascular defects in mice;Eklund;Proc Natl Acad Sci USA,2001

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