M. Atkinson

发表

A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proα1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases

P. Byers, D. Chitayat, W. Wilcox, 2002, Journal of medical genetics.

Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).

P. Byers, D. Greenspan, U. Schwarze, 2000, American journal of human genetics.

Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.

S. Krane, P. Byers, R. Matalon, 1997, American journal of medical genetics.

STRATEGIES AND OUTCOMES OF PRENATAL DIAGNOSIS FOR OSTEOGENESIS IMPERFECTA: A REVIEW OF BIOCHEMICAL AND MOLECULAR STUDIES COMPLETED IN 129 PREGNANCIES

P. Byers, M. Pepin, M. Atkinson, 1997, Prenatal diagnosis.

Molecular mapping of wheat: major genes and rearrangements in homoeologous groups 4, 5, and 7.

J. Anderson, M. Sorrells, J. Faris, 1995, Genetics.

Plant viruses with circular single-stranded DNA

H. Barker, B. Harrison, K. R. Bock, 1977, Nature.

Molecular mapping of wheat. Homoeologous group 2.

M. Sorrells, P. Leroy, E. Autrique, 1995, Genome.

Mapping cDNAs by Hybridization to Gridded Arrays of DNA from YAC Clones

P. Richterich, G. Vovis, Douglas R. Smith, 1994 .

Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.

P. Byers, M. Willing, C. Pruchno, 1992, American journal of human genetics.

Substitutions of aspartic acid for glycine-220 and of arginine for glycine-664 in the triple helix of the pro alpha 1(I) chain of type I procollagen produce lethal osteogenesis imperfecta and disrupt the ability of collagen fibrils to incorporate crystalline hydroxyapatite.

P. Byers, K. Kadler, A. Culbert, 1995, The Biochemical journal.

Deletions and duplications of Gly‐Xaa‐Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta

P. Byers, M. Willing, J. M. Pace, 2001, Human mutation.