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Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.
Hovnanian A, Rochat A, Bodemer C, Petit E, Rivers CA, Prost C, Fraitag S, Christiano AM, Uitto J, Lathrop M, Barrandon Y, de Prost Y. Hovnanian A, et al. Among authors: lathrop m. Am J Hum Genet. 1997 Sep;61(3):599-610. doi: 10.1086/515495. Am J Hum Genet. 1997. PMID: 9326325 Free PMC article.
Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa.
Sakuntabhai A, Hammami-Hauasli N, Bodemer C, Rochat A, Prost C, Barrandon Y, de Prost Y, Lathrop M, Wojnarowska F, Bruckner-Tuderman L, Hovnanian A. Sakuntabhai A, et al. Among authors: lathrop m. Am J Hum Genet. 1998 Sep;63(3):737-48. doi: 10.1086/302029. Am J Hum Genet. 1998. PMID: 9718359 Free PMC article.
Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region.
Monk S, Sakuntabhai A, Carter SA, Bryce SD, Cox R, Harrington L, Levy E, Ruiz-Perez VL, Katsantoni E, Kodvawala A, Munro CS, Burge S, Larrègue M, Nagy G, Rees JL, Lathrop M, Monaco AP, Strachan T, Hovnanian A. Monk S, et al. Among authors: lathrop m. Am J Hum Genet. 1998 Apr;62(4):890-903. doi: 10.1086/301794. Am J Hum Genet. 1998. PMID: 9529352 Free PMC article.
Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease.
Andrew LJ, Brancolini V, de la Pena LS, Devoto M, Caeiro F, Marchegiani R, Reginato A, Gaucher A, Netter P, Gillet P, Loeuille D, Prockop DJ, Carr A, Wordsworth BF, Lathrop M, Butcher S, Considine E, Everts K, Nicod A, Walsh S, Williams CJ. Andrew LJ, et al. Among authors: lathrop m. Am J Hum Genet. 1999 Jan;64(1):136-45. doi: 10.1086/302186. Am J Hum Genet. 1999. PMID: 9915952 Free PMC article.
657 results