A Family with Stickler Syndrome Type 2 Has a Mutation in the COL11A1 Gene Resulting in the Substitution of Glycine 97 by Valine in a1(XI) Collagen

Author： Richards Allan J.   Yates John R. W.   Williams Rebecca   Payne Stewart J.   Michael Pope F.   Scott John D.   Snead Martin P.  

Publisher： Oxford University Press

ISSN： 1460-2083

Source： Human Molecular Genetics, Vol.5, Iss.9, 1996-01, pp. : 1339-1343

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type

By  

Molecular Syndromology, Vol. 4, Iss. 3, 2013-01 ,pp. : 148-151

Karger

Access to resources Recommend Favorite

Missense mutation in a von Willebrand factor type A domain of the α3(VI) collagen gene ( COL6A3 ) in a family with Bethlem myopathy

By Speer M.C.  

Human Molecular Genetics, Vol. 7, Iss. 5, 1998-05 ,pp. : 807-812

Oxford University Press

Access to resources Recommend Favorite

Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia‐Strudwick type (SEMD‐S)

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 12, 2015-12 ,pp. : 3103-3107

John Wiley & Sons Inc

Access to resources Recommend Favorite

A Novel G to A Substitution at Nucleotide 1734 of the FBN1 Gene Predicting a C534Y Mutation Responsible for Marfan Syndrome

By  

Human Heredity, Vol. 49, Iss. 3, 1999-05 ,pp. : 176-177

Karger

Access to resources Recommend Favorite

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 11, 2015-11 ,pp. : 2868-2868

John Wiley & Sons Inc

Access to resources Recommend Favorite