相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Autosomal Recessive Stickler Syndrome in Two Families Is Caused by Mutations in the COL9A1 Gene
Konstantinos Nikopoulos et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
A Review of Donnai-Barrow and Facio-oculo-acoustico-renal (DB/FOAR) Syndrome: Clinical Features and Differential Diagnosis
Barbara R. Pober et al.
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY (2009)
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
Sibel Kantarci et al.
NATURE GENETICS (2007)
Megalin and cubilin: Multifunctional endocytic receptors
EI Christensen et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2002)