Original language | English |
---|---|
Pages (from-to) | 174-187 |
Number of pages | 14 |
Journal | American Journal of Human Genetics |
Volume | 73 |
Issue number | 1 |
DOIs | |
Publication status | Published - 2003 |
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Loss of Kindlin-1, a human homolog of the Caenorhabditis elegans actin–extracellular-matrix linker protein UNC-112, causes Kindler syndrome. / Siegel, Dawn H.; Ashton, Gabrielle H. S.; Penagos, Homero G.; Lee, James V.; Feiler, Heidi S.; Wilhelmsen, Kirk C.; South, Andrew P.; Smith, Frances; Prescott, Alan R.; Wessagowit, Vesarat; Oyama, Noritaka; Akiyama, Masashi; Al Aboud, Daifullah; Al Aboud, Khalid; Al Githami, Ahmad; Al Hawsawi, Khalid; Al Ismaily, Abla; Al-Suwaid, Raouf; Atherton, David J.; Caputo, Ruggero; Fine, Jo-David; Frieden, Ilona J.; Fuchs, Elaine; Haber, Richard M.; Harada, Takashi; Kitajima, Yasuo; Mallory, Susan B.; Ogawa, Hideoki; Sahin, Sedef; Shimizu, Hiroshi; Suga, Yasushi; Tadini, Gianluca; Tsuchiya, Kikuo; Wiebe, Colin B.; Wojnarowska, Fenella; Zaghloul, Adel B.; Hamada, Takahiro; Mallipeddi, Rajeev; Eady, Robin A. J.; McLean, Irwin; McGrath, John A.; Epstein, Ervin H.
In: American Journal of Human Genetics, Vol. 73, No. 1, 2003, p. 174-187.Research output: Contribution to journal › Article › peer-review
TY - JOUR
T1 - Loss of Kindlin-1, a human homolog of the Caenorhabditis elegans actin–extracellular-matrix linker protein UNC-112, causes Kindler syndrome
AU - Siegel, Dawn H.
AU - Ashton, Gabrielle H. S.
AU - Penagos, Homero G.
AU - Lee, James V.
AU - Feiler, Heidi S.
AU - Wilhelmsen, Kirk C.
AU - South, Andrew P.
AU - Smith, Frances
AU - Prescott, Alan R.
AU - Wessagowit, Vesarat
AU - Oyama, Noritaka
AU - Akiyama, Masashi
AU - Al Aboud, Daifullah
AU - Al Aboud, Khalid
AU - Al Githami, Ahmad
AU - Al Hawsawi, Khalid
AU - Al Ismaily, Abla
AU - Al-Suwaid, Raouf
AU - Atherton, David J.
AU - Caputo, Ruggero
AU - Fine, Jo-David
AU - Frieden, Ilona J.
AU - Fuchs, Elaine
AU - Haber, Richard M.
AU - Harada, Takashi
AU - Kitajima, Yasuo
AU - Mallory, Susan B.
AU - Ogawa, Hideoki
AU - Sahin, Sedef
AU - Shimizu, Hiroshi
AU - Suga, Yasushi
AU - Tadini, Gianluca
AU - Tsuchiya, Kikuo
AU - Wiebe, Colin B.
AU - Wojnarowska, Fenella
AU - Zaghloul, Adel B.
AU - Hamada, Takahiro
AU - Mallipeddi, Rajeev
AU - Eady, Robin A. J.
AU - McLean, Irwin
AU - McGrath, John A.
AU - Epstein, Ervin H.
N1 - dc.publisher: Elsevier Contributing author involved in the planning, laboratory work and writing of the first paper to identify a new family of actin linker proteins (now the focus of substantial research activity) and to map and identify the gene for Kindler syndrome, a rare skin blistering, skin atrophy, photosensitivity disorder.
PY - 2003
Y1 - 2003
U2 - 10.1086/376609
DO - 10.1086/376609
M3 - Article
C2 - 12789646
VL - 73
SP - 174
EP - 187
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 1
ER -