REFERENCES:

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z |


* An asterisk denotes an unpublished observation.



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Sebastio G., Sperandeo M. P., Panico M., de Franchis R., Kraus J. and Andria G. (1995). The molecular basis of homocystinuria due to cystathionine b-synthase deficiency in Italian families, and report of four novel mutations. Am J Hum Genet 56: 1324-1333. [MEDLINE]

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Urreizti R, Balcells S, Rodes M, Vilarinho L, Baldellou A, Luz Couce M, Munoz C, Campistol J, Pinto X, Antonia Vilaseca M, Grinberg D.(2003). Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: High prevalence of T191M and absence of I278T or G307S.. Hum Mutat Jul;22(1):103.[MEDLINE]

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Zaidi S, Faiyaz-Ul-Haque M, Shuaib T, Balobaid A, Rahbeeni Z, Abalkhail H, Al-Abdullatif A, Al-Hassnan Z, Peltekova I, Al-Owain M. 2011. Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria. Clin Genet.

Zschocke J, Kebbewar M, Gan-Schreier H, Fischer C, Fang-Hoffmann J, Wilrich J, Abdoh G, Ben-Omran T, Shahbek N, Lindner M and others. 2009. Molecular neonatal screening for homocystinuria in the Qatari population. Hum Mutat 30(6):1021-2.

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