Mutational spectrum of NSDHL in CHILD syndrome. Issue 2 (2nd February 2005)

• Record Type: Journal Article
• Authors: Bornholdt, D; König, A; Happle, R; Leveleki, L; Bittar, M; Danarti, R; Vahlquist, A; Tilgen, W; Reinhold, U; Poiares Baptista, A; Grosshans, É; Vabres, P; Niiyama, S; Sasaoka, K; Tanaka, T; Meiss, A L; Treadwell, P A; Lambert, D; Camacho, F; Grzeschik, K-H
• Is Part Of: Journal of medical genetics. Volume 42:Issue 2(2005)
• Page Start: e17
• Page End: e17
• Publication Date: 2005-02-02
• Subjects: CHILD, congenital hemidysplasia with ichthyosiform naevus and limb defects -- MAPH, measurement by amplifiable probe hybridisation -- NSDHL, NAD(P)H steroid dehydrogenase-like protein -- SSCA, single strand conformation analysis; CHILD -- NSDHL -- developmental defect -- ichthyosis; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.2004.024448
• Languages: English
• ISSNs: 1468-6244