文献
J-GLOBAL ID:201002292737444256
整理番号:10A0884516
TWIST2のホモ接合ナンセンス突然変異はSetleis症候群を引き起こす
Homozygous Nonsense Mutations in TWIST2 Cause Setleis Syndrome
著者 (10件):
TUKEL Turgut
(Dep. of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York Univ., New York, NY 10029, USA)
,
SOSIC Drazen
(Dep. of Molecular Biology, Univ. of Texas Southwestern Medical Center, Dallas, TX 75390, USA)
,
AL-GAZALI Lihadh I.
(Dep. of Pediatrics, Fac. of Medicine and Health Sciences, United Arab Emirates Univ., Al Ain, United Arab Emirates)
,
ERAZO Monica
(Dep. of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York Univ., New York, NY 10029, USA)
,
CASASNOVAS Jose
(Dep. of Biochemistry, Univ. of Puerto Rico School of Medicine P.O. Box 365067, San Juan, PR 00936-5067, USA)
,
FRANCO Hector L.
(Dep. of Biochemistry, Univ. of Puerto Rico School of Medicine P.O. Box 365067, San Juan, PR 00936-5067, USA)
,
RICHARDSON James A.
(Dep. of Molecular Biology, Univ. of Texas Southwestern Medical Center, Dallas, TX 75390, USA)
,
OLSON Eric N.
(Dep. of Molecular Biology, Univ. of Texas Southwestern Medical Center, Dallas, TX 75390, USA)
,
CADILLA Carmen L.
(Dep. of Biochemistry, Univ. of Puerto Rico School of Medicine P.O. Box 365067, San Juan, PR 00936-5067, USA)
,
DESNICK Robert J.
(Dep. of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York Univ., New York, NY 10029, USA)
資料名:
American Journal of Human Genetics
(American Journal of Human Genetics)
巻:
87
号:
2
ページ:
289-296
発行年:
2010年08月13日
JST資料番号:
B0360B
ISSN:
0002-9297
資料種別:
逐次刊行物 (A)
発行国:
オランダ (NLD)
言語:
英語 (EN)