Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients

Tina Duelund Hjortshøj; Karen Grønskov; Alisdair R Philp; Darryl Y Nishimura; Adebowale Adeyemo; Charles N Rotimi; Val C Sheffield; Thomas Rosenberg; Karen Brøndum-Nielsen

doi:10.1002/ajmg.a.32136

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients

Tina Duelund Hjortshøj, Karen Grønskov, Alisdair R Philp, Darryl Y Nishimura, Adebowale Adeyemo, Charles N Rotimi, Val C Sheffield, Thomas Rosenberg, Karen Brøndum-Nielsen

18 Citationer (Scopus)

Originalsprog	Engelsk
Tidsskrift	American Journal of Medical Genetics. Part A
Vol/bind	146A
Udgave nummer	4
Sider (fra-til)	517-20
Antal sider	4
ISSN	1552-4825
DOI	https://doi.org/10.1002/ajmg.a.32136
Status	Udgivet - 15 feb. 2008

Adgang til dokumentet

10.1002/ajmg.a.32136

Citationsformater

@article{a202cea3cdb446d1ba4ee3b2426bfc66,

title = "Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients",

keywords = "Amino Acid Sequence, Bardet-Biedl Syndrome/ethnology, Conserved Sequence, Continental Population Groups/genetics, Cytoskeletal Proteins, DNA Mutational Analysis, Databases, Genetic, Family, Genetic Testing, Humans, Molecular Sequence Data, Mutation, Phosphate-Binding Proteins, Proteins/genetics",

author = "Hjortsh{\o}j, {Tina Duelund} and Karen Gr{\o}nskov and Philp, {Alisdair R} and Nishimura, {Darryl Y} and Adebowale Adeyemo and Rotimi, {Charles N} and Sheffield, {Val C} and Thomas Rosenberg and Karen Br{\o}ndum-Nielsen",

year = "2008",

month = feb,

day = "15",

doi = "10.1002/ajmg.a.32136",

language = "English",

volume = "146A",

pages = "517--20",

journal = "American Journal of Medical Genetics. Part A",

issn = "1552-4825",

publisher = "John Wiley and Sons Inc.",

number = "4",

}

TY - JOUR

T1 - Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients

AU - Hjortshøj, Tina Duelund

AU - Grønskov, Karen

AU - Philp, Alisdair R

AU - Nishimura, Darryl Y

AU - Adeyemo, Adebowale

AU - Rotimi, Charles N

AU - Sheffield, Val C

AU - Rosenberg, Thomas

AU - Brøndum-Nielsen, Karen

PY - 2008/2/15

Y1 - 2008/2/15

KW - Amino Acid Sequence

KW - Bardet-Biedl Syndrome/ethnology

KW - Conserved Sequence

KW - Continental Population Groups/genetics

KW - Cytoskeletal Proteins

KW - DNA Mutational Analysis

KW - Databases, Genetic

KW - Family

KW - Genetic Testing

KW - Humans

KW - Molecular Sequence Data

KW - Mutation

KW - Phosphate-Binding Proteins

KW - Proteins/genetics

U2 - 10.1002/ajmg.a.32136

DO - 10.1002/ajmg.a.32136

M3 - Journal article

C2 - 18203199

SN - 1552-4825

VL - 146A

SP - 517

EP - 520

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

IS - 4

ER -