|
|
|
|
| LEADER |
03140nmm a2200301 u 4500 |
| 001 |
EB000629403 |
| 003 |
EBX01000000000000000482485 |
| 005 |
00000000000000.0 |
| 007 |
cr||||||||||||||||||||| |
| 008 |
140122 ||| eng |
| 020 |
|
|
|a 9781468459586
|
| 100 |
1 |
|
|a Harris, Harry
|e [editor]
|
| 245 |
0 |
0 |
|a Advances in Human Genetics
|h Elektronische Ressource
|b Volume 20
|c edited by Harry Harris, Kurt Hirschhorn
|
| 250 |
|
|
|a 1st ed. 1991
|
| 260 |
|
|
|a New York, NY
|b Springer US
|c 1991, 1991
|
| 300 |
|
|
|a 308 p
|b online resource
|
| 505 |
0 |
|
|a Miscellaneous Hereditary Amyloidoses -- The Treatment of Hereditary Forms of Amyloidosis -- Conclusions -- References -- 3 Huntington’s Disease -- Clinical Characteristics of HD -- Neuropathology and Neurochemistry -- Epidemiology -- A Molecular Genetic Approach to Investigation of HD -- Success of the Linkage Strategy -- Defining the HD Candidate Region -- Isolation of DNA Probes from the Candidate Region -- Fine Structure Physical Mapping of the Candidate Region -- Genetic Mapping of the Candidate Region -- Positioning of the HD Gene by Apparent Crossover Events -- Linkage Disequilibrium -- What Is the HD Gene? -- References -- 4 Biochemical and Molecular Genetics of Cystic Fibrosis -- Early Attempts to Identify Biochemical Markers for CF -- Epithelial Ion Transport -- CF Gene Mapping -- Identification of the CF Gene -- The CF Gene Product(CFTR) -- Genotype and Phenotype -- Explanations for High CF Gene Frequency -- Genetic Diagnosis -- Concluding Remarks -- References --
|
| 505 |
0 |
|
|a 5 Molecular Genetics of von Recklinghausen Neurofibromatosis -- Clinical Features -- Genetics of NF1 -- Biochemical and Neurobiological Aspects -- Molecular Genetics -- Future Directions -- References -- Addenda
|
| 505 |
0 |
|
|a 1 Clinical and Molecular Genetics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency -- Introduction: Adrenal Steroidogenesis -- The Physiology of 21-Hydroxylase Deficiency -- Genetics of the 21-Hydroxylase Locus -- Southern Blotting Studies in CAH -- Gene Defects Detectable by Southern Blotting -- Point Mutations in CAH -- Prenatal Diagnosis of CAH -- References -- 2 Genetic Aspects of Amyloidosis -- Amyloidosis: Historical Background -- Amyloidosis: Definition -- Chemical Classification of the Amyloid Syndromes -- Transthyretin-Associated Amyloidosis -- Familial Mediterranean Fever and Other Hereditary Amyloidoses of the Amyloid A (AA) Type -- ACYS (Cystatin C) Hereditary Cerebral Hemorrhage with Amyloidosis: (HCHWA)-Iceland -- Aß Amyloidosis: Dutch-Type HCHWA, Alzheimer’s Disease, and Down Syndrome -- AGEL: Familial Amyloidosis of the Finnish Type -- AAPOAI: Familial Amyloid Polyneuropathy, Iowa-(Van Allen) -- AC AL: Multiple Endocrine Neoplasia --
|
| 653 |
|
|
|a Medical Genetics
|
| 653 |
|
|
|a Medical genetics
|
| 700 |
1 |
|
|a Hirschhorn, Kurt
|e [editor]
|
| 041 |
0 |
7 |
|a eng
|2 ISO 639-2
|
| 989 |
|
|
|b SBA
|a Springer Book Archives -2004
|
| 490 |
0 |
|
|a Advances in Human Genetics
|
| 028 |
5 |
0 |
|a 10.1007/978-1-4684-5958-6
|
| 856 |
4 |
0 |
|u https://doi.org/10.1007/978-1-4684-5958-6?nosfx=y
|x Verlag
|3 Volltext
|
| 082 |
0 |
|
|a 616.042
|