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Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability.
Nakashima, Eiji; Tran, Joseph R; Welting, Tim J M; Pruijn, Ger J M; Hirose, Yuichiro; Nishimura, Gen; Ohashi, Hirofumi; Schurman, Shepherd H; Cheng, Jun; Candotti, Fabio; Nagaraja, Ramaiah; Ikegawa, Shiro; Schlessinger, David.
Affiliation
  • Nakashima E; Laboratory of Genetics, NIH/National Institute on Aging, Baltimore, Maryland 21224, USA.
Am J Med Genet A ; 143A(22): 2675-81, 2007 Nov 15.
Article in En | MEDLINE | ID: mdl-17937437
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Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Endoribonucleases / Hair Diseases Type of study: Etiology_studies Limits: Animals / Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2007 Document type: Article Affiliation country: United States Country of publication: United States
Search on Google
Add to My VHL
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PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Endoribonucleases / Hair Diseases Type of study: Etiology_studies Limits: Animals / Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2007 Document type: Article Affiliation country: United States Country of publication: United States