Missense mutations in COL8A2, the gene encoding the alpha-2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

S Biswas; FL Munier; JE Urquhart; N Hart-Holden; R Perveen; P Cousin; JE Sutphin; B Noble; M Batterbury; CM Kielty; A Hackett; RR Bonshek; A Ridgway; David Mcleod; VC Sheffield; EM Stone; J Yardley; DF Schorderet; GCM Black

doi:10.1093/hmg/10.21.2415

Missense mutations in COL8A2, the gene encoding the alpha-2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

S Biswas, FL Munier, JE Urquhart, N Hart-Holden, R Perveen, P Cousin, JE Sutphin, B Noble, M Batterbury, CM Kielty, A Hackett, RR Bonshek, A Ridgway, David Mcleod, VC Sheffield, EM Stone, J Yardley, DF Schorderet, GCM Black

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	2415-2423
Journal	Human Molecular Genetics
Volume	10
DOIs	https://doi.org/10.1093/hmg/10.21.2415
Publication status	Published - 2001

Keywords

Amino Acid Sequence
Base Sequence
Chromosome Mapping
genetics: Chromosomes, Human, Pair 1
genetics: Collagen Type VIII
genetics: Corneal Dystrophies, Hereditary
chemistry: DNA
pathology: Endothelium, Corneal
Family Health
Female
genetics: Fuchs' Endothelial Dystrophy
genetics: Genes
Haplotypes
Humans
Male
Microsatellite Repeats
Microscopy, Electron
Molecular Sequence Data
Mutation, Missense
Pedigree
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Sequence Analysis, DNA

Access to Document

10.1093/hmg/10.21.2415

Cite this

Biswas, S., Munier, FL., Urquhart, JE., Hart-Holden, N., Perveen, R., Cousin, P., Sutphin, JE., Noble, B., Batterbury, M., Kielty, CM., Hackett, A., Bonshek, RR., Ridgway, A., Mcleod, D., Sheffield, VC., Stone, EM., Yardley, J., Schorderet, DF., & Black, GCM. (2001). Missense mutations in COL8A2, the gene encoding the alpha-2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Human Molecular Genetics, 10, 2415-2423. https://doi.org/10.1093/hmg/10.21.2415

@article{cc69010ebd084042a1b7483c643645e2,

title = "Missense mutations in COL8A2, the gene encoding the alpha-2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy",

keywords = "Amino Acid Sequence, Base Sequence, Chromosome Mapping, genetics: Chromosomes, Human, Pair 1, genetics: Collagen Type VIII, genetics: Corneal Dystrophies, Hereditary, chemistry: DNA, pathology: Endothelium, Corneal, Family Health, Female, genetics: Fuchs' Endothelial Dystrophy, genetics: Genes, Haplotypes, Humans, Male, Microsatellite Repeats, Microscopy, Electron, Molecular Sequence Data, Mutation, Missense, Pedigree, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S., Sequence Analysis, DNA",

author = "S Biswas and FL Munier and JE Urquhart and N Hart-Holden and R Perveen and P Cousin and JE Sutphin and B Noble and M Batterbury and CM Kielty and A Hackett and RR Bonshek and A Ridgway and David Mcleod and VC Sheffield and EM Stone and J Yardley and DF Schorderet and GCM Black",

year = "2001",

doi = "10.1093/hmg/10.21.2415",

language = "English",

volume = "10",

pages = "2415--2423",

journal = "Human Molecular Genetics",

issn = "1460-2083",

publisher = "Oxford University Press",

}

Biswas, S, Munier, FL, Urquhart, JE, Hart-Holden, N, Perveen, R, Cousin, P, Sutphin, JE, Noble, B, Batterbury, M, Kielty, CM, Hackett, A, Bonshek, RR, Ridgway, A, Mcleod, D, Sheffield, VC, Stone, EM, Yardley, J, Schorderet, DF & Black, GCM 2001, 'Missense mutations in COL8A2, the gene encoding the alpha-2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy', Human Molecular Genetics, vol. 10, pp. 2415-2423. https://doi.org/10.1093/hmg/10.21.2415

TY - JOUR

T1 - Missense mutations in COL8A2, the gene encoding the alpha-2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

AU - Biswas, S

AU - Munier, FL

AU - Urquhart, JE

AU - Hart-Holden, N

AU - Perveen, R

AU - Cousin, P

AU - Sutphin, JE

AU - Noble, B

AU - Batterbury, M

AU - Kielty, CM

AU - Hackett, A

AU - Bonshek, RR

AU - Ridgway, A

AU - Mcleod, David

AU - Sheffield, VC

AU - Stone, EM

AU - Yardley, J

AU - Schorderet, DF

AU - Black, GCM

PY - 2001

Y1 - 2001

KW - Amino Acid Sequence

KW - Base Sequence

KW - Chromosome Mapping

KW - genetics: Chromosomes, Human, Pair 1

KW - genetics: Collagen Type VIII

KW - genetics: Corneal Dystrophies, Hereditary

KW - chemistry: DNA

KW - pathology: Endothelium, Corneal

KW - Family Health

KW - Female

KW - genetics: Fuchs' Endothelial Dystrophy

KW - genetics: Genes

KW - Haplotypes

KW - Humans

KW - Male

KW - Microsatellite Repeats

KW - Microscopy, Electron

KW - Molecular Sequence Data

KW - Mutation, Missense

KW - Pedigree

KW - Research Support, Non-U.S. Gov't

KW - Research Support, U.S. Gov't, P.H.S.

KW - Sequence Analysis, DNA

U2 - 10.1093/hmg/10.21.2415

DO - 10.1093/hmg/10.21.2415

M3 - Article

SN - 1460-2083

VL - 10

SP - 2415

EP - 2423

JO - Human Molecular Genetics

JF - Human Molecular Genetics

ER -