16451139 |
Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria
la Marca, G,
Poggi, GM,
Morrone, A,
Zammarchi, E,
Funghini, S,
Pasquini, E,
Donati, MA,
Ciani, F,
Cavicchi, C,
Malvagia, S
|
Clin. Genet. |
2006 |
15643616 |
Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene
Koskas, T,
Pereira, S,
Elion, J,
Callebaut, I,
Porquet, D,
Acquaviva, C,
Benoist, JF
|
Hum. Mutat. |
2005 |
1970180 |
Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia
Jansen, R,
Rosenberg, LE,
Nham, SU,
Ledley, FD,
Fenton, WA
|
Proc. Natl. Acad. Sci. U.S.A. |
1990 |
11350191 |
Mutation analysis of the MCM gene in Israeli patients with mut(0) disease
Elpeleg, ON,
Anikster, Y,
Berger, I,
Joseph, A,
Bar-Meir, M,
Baumgartner, ER,
Shaag, A
|
Mol. Genet. Metab. |
2001 |
8990001 |
Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations
Ledley, FD,
Rosenblatt, DS
|
Hum. Mutat. |
1997 |
1670635 |
Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation
Jansen, R,
Crane, AM,
Raff, ML,
Ledley, FD,
Rosenblatt, DS
|
J. Clin. Invest. |
1991 |
1977311 |
Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning
Jansen, R,
Ledley, FD
|
Am. J. Hum. Genet. |
1990 |
16281286 |
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype
Niles, K,
Worgan, LC,
Rosenblatt, DS,
Lepage, P,
Hofmann, A,
Kucic, T,
Tirone, JC,
Sammak, A,
Verner, A
|
Hum. Mutat. |
2006 |
11528502 |
N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients
Porquet, D,
Ogier de Baulny, H,
Touati, G,
Acquaviva, C,
Elion, J,
Callebaut, I,
Aydin, A,
Guffon, N,
Benoist, JF
|
Eur. J. Hum. Genet. |
2001 |
7909321 |
Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria
Matiaszuk, NV,
Crane, AM,
Qureshi, AA,
Ledley, FD,
Rezvani, I,
Rosenblatt, DS
|
J. Clin. Invest. |
1994 |
2567699 |
Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction
Jansen, R,
Rosenberg, LE,
Kalousek, F,
Ledley, FD,
Fenton, WA
|
Genomics |
1989 |