N N Ahmad

Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).

N N Ahmad, Leena Ala‐Kokko, Robert G. Knowlton et al. · Proceedings of the National Academy of Sciences · 1991 · 318 citations · Full text

Immunodeficiencies, Genetics, Type Ii Collagen +18

A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.

N N Ahmad, Donna M. McDonald‐McGinn, Elaine H. Zackai et al. · PubMed · 1993 · 110 citations

Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family

Larry A. Donoso, Albert O. Edwards, Arcilee Frost et al. · American Journal of Ophthalmology · 2002 · 72 citations

Large Stickler, Mendelian Disorder, Connective Tissue Disease +11

Stickler Syndrome

N N Ahmad · Archives of Ophthalmology · 1995 · 63 citations

Modification of standard proteinase K/phenol method for DNA isolation to improve yield and purity from frozen blood.

N N Ahmad, A B Cu-Unjieng, Larry A. Donoso · Journal of Medical Genetics · 1995 · 36 citations · Full text

Engineering, Dna Analysis, Molecular Biology +19