| Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Hanks S., Adams S., Douglas J., Arbour L., Atherton D.J., Balci S., Bode H., Campbell M.E., Feingold M., Keser G. et al.
Am. J. Hum. Genet. 73:791-800(2003) · UniProtKB (1) · Mapped (4) |
| Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule. Richards A.J., Morgan J., Bearcroft P.W.P., Pickering E., Owen M.J., Holmans P., Williams N., Tysoe C., Pope F.M., Snead M.P. et al.
J. Med. Genet. 39:661-665(2002) · UniProtKB (1) |
| A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Le Saux O., Beck K., Sachsinger C., Silvestri C., Treiber C., Goering H.H.H., Johnson E.W., De Paepe A., Pope F.M., Pasquali-Ronchetti I. et al.
Am. J. Hum. Genet. 69:749-764(2001) · UniProtKB (1) · Mapped (5) |
| Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Le Saux O., Urban Z., Tschuch C., Csiszar K., Bacchelli B., Quaglino D., Pasquali-Ronchetti I., Pope F.M., Richards A., Terry S. et al.
Nat. Genet. 25:223-227(2000) · UniProtKB (3) |
| COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes. Richards A.J., Martin S., Yates J.R., Scott J.D., Baguley D.M., Pope F.M., Snead M.P.
Br J Ophthalmol 84:364-371(2000) · Mapped (4) |
| A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. Richards A.J., Martin S., Nicholls A.C., Harrison J.B., Pope F.M., Burrows N.P.
J. Med. Genet. 35:846-848(1998) · UniProtKB (1) |
| A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families. Burrows N.P., Nicholls A.C., Richards A.J., Luccarini C., Harrison J.B., Yates J.R., Pope F.M.
Am. J. Hum. Genet. 63:390-398(1998) |
| The structural organisation of LAMA4, the gene encoding laminin alpha4. Richards A.J., Luccarini C., Pope F.M.
Eur. J. Biochem. 248:15-23(1997) · UniProtKB (1) |
| A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha-1(XI) collagen. Richards A.J., Yates J.R.W., Williams R., Payne S.J., Pope F.M., Scott J.D., Snead M.P.
Hum. Mol. Genet. 5:1339-1343(1996) · UniProtKB (1) |
| Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa. Dunnill M.G.S., McGrath J.A., Richards A.J., Christiano A.M., Uitto J., Pope F.M., Eady R.A.J.
J. Invest. Dermatol. 107:171-177(1996) · UniProtKB (1) |
| The gene encoding collagen alpha1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II. Burrows N.P., Nicholls A.C., Yates J.R., Gatward G., Sarathachandra P., Richards A., Pope F.M.
J. Invest. Dermatol. 106:1273-1276(1996) · Mapped (4) |
| Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding. Oliver J.E., Thompson E.M., Pope F.M., Nicholls A.C.
Hum. Mutat. 7:318-326(1996) · UniProtKB (2) |
| The complete cDNA sequence of laminin alpha 4 and its relationship to the other human laminin alpha chains. Richards A.J., Al-Imara L., Pope F.M.
Eur. J. Biochem. 238:813-821(1996) · UniProtKB (1) |
| Efficient strategy for the detection of mutations in acrogeric Ehlers-Danlos syndrome type IV. Johnson P.H., Richards A.J., Lloyd J.C., Pope F.M., Hopkinson D.A.
Hum. Mutat. 6:336-342(1995) · UniProtKB (1) |
| The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV. Richards A.J., Narcisi P., Lloyd J.C., Ferguson C., Pope F.M.
J. Med. Genet. 30:690-693(1993) · UniProtKB (1) |
| Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV. Narcisi P., Wu Y., Tromp G., Earley J.J., Richards A.J., Pope F.M., Kuivaniemi H.
Am. J. Med. Genet. 46:278-283(1993) · UniProtKB (1) |
| Localization of the gene (LAMA4) to chromosome 6q21 and isolation of a partial cDNA encoding a variant laminin A chain. Richards A.J., Al-Imara L., Carter N.P., Lloyd J.C., Leversha M.A., Pope F.M.
Genomics 22:237-239(1994) · UniProtKB (1) |
| A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637-to-serine substitution in type III collagen. Narcisi P., Richards A.J., Ferguson S.D., Pope F.M.
Hum. Mol. Genet. 3:1617-1620(1994) · UniProtKB (1) |
| Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation. Pihlajaniemi T., Dickson L.A., Pope F.M., Korhonen V.R., Nicholls A., Prockop D.J., Myers J.C.
J. Biol. Chem. 259:12941-12944(1984) · UniProtKB (1) |
| Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfecta. Dickson L.A., Pihlajaniemi T., Deak S., Pope F.M., Nicholls A., Prockop D.J., Myers J.C.
Proc. Natl. Acad. Sci. U.S.A. 81:4524-4528(1984) · UniProtKB (1) |
| A cysteine for glycine substitution at position 1017 in an alpha 1(I) chain of type I collagen in a patient with mild dominantly inherited osteogenesis imperfecta. Labhard M.E., Wirtz M.K., Pope F.M., Nicholls A.C., Hollister D.W.
Mol. Biol. Med. 5:197-207(1988) · UniProtKB (1) |
| Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfecta. Cohn D.H., Apone S., Eyre D.R., Starman B.J., Andreassen P., Charbonneau H., Nicholls A.C., Pope F.M., Byers P.H.
J. Biol. Chem. 263:14605-14607(1988) · UniProtKB (1) |
| Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV. Tromp G., Kuivaniemi H., Stolle C.A., Pope F.M., Prockop D.J.
J. Biol. Chem. 264:19313-19317(1989) · UniProtKB (1) |
| Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV. Richards A.J., Lloyd J.C., Ward P.N., de Paepe A., Narcisi P., Pope F.M.
J. Med. Genet. 28:458-463(1991) · UniProtKB (1) |
| Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta. Nicholls A.C., Oliver J.E., Renouf D.V., Keston M., Pope F.M.
J. Med. Genet. 28:757-764(1991) · UniProtKB (1) |
