Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent (Q35198349)
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(P31) (Q13442814)
(P304) 1034-1040
(P407) (Q1860)
(P433) 6
(P478) 46
(P577) Friday, June 1, 1990
(P921) (Q749409)
(P1433) (Q4744249)
(P1476) "Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent" (language: en)
(P2093) G A Wallis
B J Starman
A B Zinn
P H Byers
(P2860) (Q42101101)
(Q24602315)
(Q35246037)
(Q39554215)
(Q34164134)
(Q34566616)
(Q35815832)
(Q26778389)
(Q25938986)
(Q34241036)
(Q24514913)
(Q22066207)
(Q71120073)
(Q70077963)
(Q70341540)
(Q68468650)
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