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Nicholls, AC
Valler, D
Wallis, S
Pope, FM
Citation: Ac. Nicholls et al., Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro alpha 2(I) chain and an EDS/OI clinical phenotype, J MED GENET, 38(2), 2001, pp. 132-135
Authors:
Le Saux, O
Beck, K
Sachsinger, C
Silvestri, C
Treiber, C
Goring, HHH
Johnson, EW
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Pope, FM
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Bercovitch, L
Terry, S
Boyd, CD
Citation: O. Le Saux et al., A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum, AM J HU GEN, 69(4), 2001, pp. 749-764
Authors:
Le Saux, O
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Tschuch, C
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Quaglino, D
Pasquali-Ronchetti, I
Pope, FM
Richards, A
Terry, S
Bercovitch, L
de Paepe, A
Boyd, CD
Citation: O. Le Saux et al., Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum, NAT GENET, 25(2), 2000, pp. 223-227
Authors:
Le Saux, O
Urban, Z
Goring, HHH
Csiszar, K
Pope, FM
Richards, A
Pasquali-Ronchetti, I
Terry, S
Bercovitch, L
Lebwohl, MC
Breuning, M
van den Berg, P
Kornet, L
Doggett, N
Ott, J
de Jong, PTVM
Bergen, AAB
Boyd, CD
Citation: O. Le Saux et al., Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16 (vol 62, pg 1, 1999), GENOMICS, 63(3), 2000, pp. 439-439
Authors:
Sarathchandra, P
Pope, FM
Kayser, MV
Ali, SY
Citation: P. Sarathchandra et al., A light and electron microscopic study of osteogenesis imperfecta bone samples, with reference to collagen chemistry and clinical phenotype, J PATHOLOGY, 192(3), 2000, pp. 385-395
Authors:
Le Saux, O
Urban, Z
Goring, HHH
Csiszar, K
Pope, FM
Richards, A
Pasquali-Ronchetti, I
Terry, S
Bercovitch, L
Lebwohl, MG
Breuning, M
van den Berg, P
Kornet, L
Ott, J
de Jong, PTVM
Bergen, AAB
Boyd, CD
Citation: O. Le Saux et al., Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16, GENOMICS, 62(1), 1999, pp. 1-10
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