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Petreska L, Koceva S, Plaseska D, Chernick M, Gordova-Muratovska A, Fustic S, Nestorov R, Efremov GD. Molecular basis of cystic fibrosis in the Republic of Macedonia. Clin Genet 1998: 54: 203–209. 0 Munksgaard, 1998 Eighty-three cystic fibrosis (CF) patients and their families, belonging to...
Zhong N, Wisniewski KE, Hartikainen J, Ju W, Moroziewicz DN, McLendon L, Sklower Brooks S, Brown WT. Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis Late infantile neuronal ceroid lipofuscinosis (LINCL) is one of the most common pediatric neuronal...
Lukusa T, Devriendt K, Holvoet M, Fryns JP. Severe mental retardation - distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a 10q25→qter deletion. CIin Genet 1998: 54: 224–230. 8 Munksgaard, 1998 We present the first report of chromosomal...
Hallam PJ, Mannucci P, Tripodi A, Bevan D, Laursen B, Tengborn L, Wacey A, Cooper DN. Three novel PROC gene lesions causing protein C deficiency. Clin Genet 1998: 54: 231–233. 0 Munksgaard, 1998 Missense mutations. three of them novel (Am210→Val, Asn248→ Ile, Ah355→Val), were found in the...
Arruda VR, Grignolli CE, Goncalves MS, Soares MC, Menezes R, Saad STO, Costa FF. Prevalence of homozygosity for the deleted alleles of glutathione S-transferase mu (GSTMl) and theta (GSTTl) among distinct ethnic groups from Brazil: relevance to enviromental carcinogenesis? Clin Genet 1998: 54:...
Steinlein OK. New insights into the molecular and genetic mechanisms underlying idiopathic epilepsies. For many years, idiopathic epilepsies have been known to have a strong genetic background. In most subtypes, the mode of inheritance appears to be complex, with only some rare idiopathic...
Kubota T, Sakurai A, Arakawa K, Shimazu M, Wakui K, Furihata K, Fukushima Y. Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome. Clin Genet 1998: 54: 199–202. 0 Munksgaard, 1998 The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked...
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