id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_a7myjphf75ctnh7htjkqdffsi4	Kazuhiko Nakabayashi	Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy	2005.0	7	.pdf	application/pdf	3753	332	60	Mutations were found in patients with Amish brittlehair syndrome and in other nonphotosensititive TTD cases with mental retardation and decreased fertility but not is a feature similar to that observed in photosensitive TTD, which is caused by mutations in transcription factor together with the protein's nuclear localization, C7orf11 may be involved in transcription but not DNA repair. results (from test primers 3, 4, 6, and 10) of the PCR-based deletion mapping of the C7orf11 locus in patient 6474 (lane C, control; lane P, did not find any mutations in the two exons and 5′ upstream region of C7orf11 in the other 10 cases of nonphotosensitive TTD, including two cases of Sabinas syndrome and one case of Pollitt syndrome, which suggests Clinical Features and C7orf11 Mutations in Patients with Nonphotosensitive TTD We identified predicted proteins with sequence similarity to human C7orf11 in six mammalian species as	./cache/work_a7myjphf75ctnh7htjkqdffsi4.pdf	./txt/work_a7myjphf75ctnh7htjkqdffsi4.txt