Loss of holocytochrome c -type synthetase causes the male lethality of X-linked dominant micro-phthalmia with linear skin defects (MLS) syndrome

Author： Prakash S.K.  

Publisher： Oxford University Press

ISSN： 1460-2083

Source： Human Molecular Genetics, Vol.11, Iss.25, 2002-12, pp. : 3237-3248

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome

By Cox Timothy C.  

Human Molecular Genetics, Vol. 9, Iss. 17, 2000-10 ,pp. : 2553-2562

Oxford University Press

Access to resources Recommend Favorite

Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP)

By Ducamp Sarah   Schneider-Yin Xiaoye   de Rooij Felix   Clayton Jerome   Fratz Erica J.   Rudd Alice   Ostapowicz George   Varigos George   Lefebvre Thibaud   Deybach Jean-Charles   Gouya Laurent   Wilson Paul   Ferreira Gloria C.   Minder Elisabeth I.   Puy Hervé  

Human Molecular Genetics, Vol. 22, Iss. 7, 2013-04 ,pp. : 1280-1288

Oxford University Press

Access to resources Recommend Favorite

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome

By Budny Bartlomiej   Chen Wei   Omran Heymut   Fliegauf Manfred   Tzschach Andreas   Wisniewska Marzena   Jensen Lars   Raynaud Martine   Shoichet Sarah   Badura Magda   Lenzner Steffen   Latos-Bielenska Anna   Ropers Hans-Hilger  

Human Genetics, Vol. 120, Iss. 2, 2006-09 ,pp. : 171-178

Springer Publishing Company

Access to resources Recommend Favorite

Gene expression analysis in a canine model of X-linked Alport syndrome

By Greer Kimberly   Higgins Marnie   Cox Melissa   Ryan Timothy   Berridge Brian   Kashtan Clifford   Lees George   Murphy Keith  

Mammalian Genome, Vol. 17, Iss. 9, 2006-09 ,pp. : 976-990

Springer Publishing Company

Access to resources Recommend Favorite

X-linked cataract and Nance-Horan syndrome are allelic disorders

By Coccia Margherita   Brooks Simon P.   Webb Tom R.   Christodoulou Katja   Wozniak Izabella O.   Murday Victoria   Balicki Martha   Yee Harris A.   Wangensteen Teresia   Riise Ruth   Saggar Anand K.   Park Soo-Mi   Kanuga Naheed   Francis Peter J.   Maher Eamonn R.   Moore Anthony T.   Russell-Eggitt Isabelle M.   Hardcastle Alison J.  

Human Molecular Genetics, Vol. 18, Iss. 14, 2009-07 ,pp. : 2643-2655

Oxford University Press

Access to resources Recommend Favorite