Detail Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism   Oleh:  Rauch, Anita ; Thiel, Christian T. ; Schindler, Detlev ; Wick, Ursula Jenis: Article from Bulletin/Magazine Dalam koleksi: SCIENCE (keterangan: ada di Proquest) vol. 319 no. 5864 (Feb. 2008), page 816-818. Topik: Mutations; Pericentrin (PCNT) Gene; Primordial Dwarfism Ketersediaan Perpustakaan FK Nomor Panggil: S01.K.2008.02 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada     Lihat Detail Induk Isi artikel Fundamental processes influencing human growth can be revealed by studying extreme short stature. Using genetic linkage analysis, we find that biallelic loss-of-function mutations in the centrosomal pericentrin (PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) in 25 patients. Adults with this rare inherited condition have an average height of 100 centimeters and a brain size comparable to that of a 3-month-old baby, but are of near-normal intelligence. Absence of PCNT results in disorganized mitotic spindles and missegregation of chromosomes. Mutations in related genes are known to cause primary microcephaly (MCPH1, CDK5RAP2, ASPM, and CENPJ). Opini Anda Klik untuk menuliskan opini Anda tentang koleksi ini! Kembali

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